CleftGeneDB-Search

Gene: TGFBR2

Basic information

Tag	Content
Uniprot ID	P37173; B4DTV5; Q15580; Q6DKT6; Q99474;
Entrez ID	7048
Genbank protein ID	BAG62117.1; AAA61164.1; EAW64412.1; BAA09332.1; AAB40916.1; BAA05673.1; AAT70724.1; AAB17553.1;
Genbank nucleotide ID	NM_003242.5; NM_001024847.2;
Ensembl protein ID	ENSP00000295754; ENSP00000351905;
Ensembl nucleotide ID	ENSG00000163513
Gene name	TGF-beta receptor type-2
Gene symbol	TGFBR2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.
Sequence	MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL CKFCDVRFST 60 CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV CHDPKLPYHD FILEDAASPK 120 CIMKEKKKPG ETFFMCSCSS DECNDNIIFS EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI 180 SVIIIFYCYR VNRQQKLSST WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE 240 LLPIELDTLV GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK 300 HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL GSSLARGIAH 360 LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL SLRLDPTLSV DDLANSGQVG 420 TARYMAPEVL ESRMNLENVE SFKQTDVYSM ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE 480 HPCVESMKDN VLRDRGRPEI PSFWLNHQGI QMVCETLTEC WDHDPEARLT AQCVAERFSE 540 LEHLDRLSGR SCSEEKIPED GSLNTTK 567

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1KTZ
1M9Z
1PLO
2PJY
3KFD
4P7U
4XJJ
5E8V
5E8Y
5E91
5E92
5QIN
5TX4
5TY4
1M9Z
1PLO
2PJY
5QIN

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TGFBR2	477039	A0A5F4D8G5			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TGFBR2		A0A452E8G0			Capra hircus	Prediction	More>>
1:1 ortholog	TGFBR2	7048	P37173			Homo sapiens	Prediction	More>>
1:1 ortholog	Tgfbr2	21813	Q62312	CPO	E14.0, E15.5	Mus musculus	Publication	More>>
1:1 ortholog	TGFBR2	460243	H2QZF5			Pan troglodytes	Prediction	More>>
1:1 ortholog	TGFBR2_tv2		A0A5K1VMN1			Sus scrofa	Prediction	More>>
1:1 ortholog	TGFBR2		G1TAL4			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Tgfbr2	81810	P38438			Rattus norvegicus	Prediction	More>>
1:1 ortholog	tgfbr2b		F1QKF4			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs565502802	p.Gly2Cys	missense variant	-	NC_000003.12:g.30606887G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000234528	p.Gly2Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30606887G>T	ClinVar
rs780267559	p.Arg3Pro	missense variant	-	NC_000003.12:g.30606891G>C	ExAC,TOPMed,gnomAD
rs780267559	p.Arg3Gln	missense variant	-	NC_000003.12:g.30606891G>A	ExAC,TOPMed,gnomAD
rs777080264	p.Gly8Asp	missense variant	-	NC_000003.12:g.30606906G>A	ExAC,gnomAD
RCV000686255	p.Leu9Ter	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30606898_30606908dup	ClinVar
rs920370571	p.Leu9Arg	missense variant	-	NC_000003.12:g.30606909T>G	TOPMed
rs1206093523	p.Pro11Leu	missense variant	-	NC_000003.12:g.30606915C>T	gnomAD
rs1201208132	p.Pro11Thr	missense variant	-	NC_000003.12:g.30606914C>A	TOPMed
rs1437593960	p.His13Gln	missense variant	-	NC_000003.12:g.30606922C>A	gnomAD
rs769700663	p.His13Arg	missense variant	-	NC_000003.12:g.30606921A>G	ExAC,gnomAD
rs1182907194	p.Val15Phe	missense variant	-	NC_000003.12:g.30606926G>T	TOPMed,gnomAD
RCV000774425	p.Val15Phe	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30606926G>T	ClinVar
rs1234963515	p.Thr18Met	missense variant	-	NC_000003.12:g.30606936C>T	gnomAD
rs763085648	p.Arg19His	missense variant	-	NC_000003.12:g.30606939G>A	ExAC,TOPMed,gnomAD
rs763085648	p.Arg19Leu	missense variant	-	NC_000003.12:g.30606939G>T	ExAC,TOPMed,gnomAD
rs767407566	p.Ser22Cys	missense variant	-	NC_000003.12:g.30606947A>T	ExAC,gnomAD
rs775405890	p.Ile24Thr	missense variant	-	NC_000003.12:g.30606954T>C	ExAC,gnomAD
rs1410470306	p.Pro25Ser	missense variant	-	NC_000003.12:g.30606956C>T	gnomAD
rs764160271	p.Pro26Ser	missense variant	-	NC_000003.12:g.30606959C>T	ExAC,TOPMed,gnomAD
rs1225583022	p.Val28Phe	missense variant	-	NC_000003.12:g.30606965G>T	TOPMed
rs1269086905	p.Lys30Arg	missense variant	-	NC_000003.12:g.30606972A>G	gnomAD
rs761400349	p.Ser31Ala	missense variant	-	NC_000003.12:g.30606974T>G	ExAC,TOPMed,gnomAD
rs984098699	p.Asp35Asn	missense variant	-	NC_000003.12:g.30644755G>A	TOPMed,gnomAD
rs984098699	p.Asp35Asn	missense variant	-	NC_000003.12:g.30644755G>A	NCI-TCGA
RCV000242516	p.Met36Val	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644758A>G	ClinVar
RCV000828695	p.Met36Val	missense variant	-	NC_000003.12:g.30644758A>G	ClinVar
rs17025864	p.Met36Leu	missense variant	-	NC_000003.12:g.30644758A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs17025864	p.Met36Val	missense variant	-	NC_000003.12:g.30644758A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs969666859	p.Ile37Val	missense variant	-	NC_000003.12:g.30644761A>G	gnomAD
rs146277116	p.Thr39Asn	missense variant	-	NC_000003.12:g.30644768C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000780774	p.Thr39Asn	missense variant	-	NC_000003.12:g.30644768C>A	ClinVar
RCV000227430	p.Thr39Asn	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644768C>A	ClinVar
rs780280433	p.Thr39Ser	missense variant	-	NC_000003.12:g.30644767A>T	ExAC,TOPMed,gnomAD
RCV000726916	p.Thr39Ser	missense variant	-	NC_000003.12:g.30644767A>T	ClinVar
rs397516837	p.Asp40Asn	missense variant	-	NC_000003.12:g.30644770G>A	-
RCV000037730	p.Asp40Asn	missense variant	-	NC_000003.12:g.30644770G>A	ClinVar
rs1305653433	p.Asn42Ser	missense variant	-	NC_000003.12:g.30644777A>G	gnomAD
rs749239632	p.Gly43Ser	missense variant	-	NC_000003.12:g.30644779G>A	ExAC,TOPMed,gnomAD
rs770482275	p.Gly43Ala	missense variant	-	NC_000003.12:g.30644780G>C	ExAC
rs749239632	p.Gly43Cys	missense variant	-	NC_000003.12:g.30644779G>T	ExAC,TOPMed,gnomAD
rs759231102	p.Ala44Val	missense variant	-	NC_000003.12:g.30644783C>T	ExAC,gnomAD
RCV000578622	p.Lys46Ter	nonsense	-	NC_000003.12:g.30644788A>T	ClinVar
rs1553627148	p.Lys46Ter	stop gained	-	NC_000003.12:g.30644788A>T	-
RCV000699100	p.Cys51Arg	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644803T>C	ClinVar
rs1559456531	p.Cys51Arg	missense variant	-	NC_000003.12:g.30644803T>C	NCI-TCGA
rs767191783	p.Lys52Thr	missense variant	-	NC_000003.12:g.30644807A>C	ExAC
rs1192366381	p.Asp55Asn	missense variant	-	NC_000003.12:g.30644815G>A	gnomAD
rs549429104	p.Asp55Val	missense variant	-	NC_000003.12:g.30644816A>T	1000Genomes,ExAC,gnomAD
rs200924849	p.Val56Met	missense variant	-	NC_000003.12:g.30644818G>A	1000Genomes,ExAC,gnomAD
rs200924849	p.Val56Leu	missense variant	-	NC_000003.12:g.30644818G>C	1000Genomes,ExAC,gnomAD
RCV000688192	p.Ser59Pro	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644827T>C	ClinVar
rs1170423783	p.Thr60Ser	missense variant	-	NC_000003.12:g.30644830A>T	gnomAD
VAR_041414	p.Cys61Arg	Missense	-	-	UniProt
rs1432089303	p.Asn63Ser	missense variant	-	NC_000003.12:g.30644840A>G	TOPMed,gnomAD
rs1301512235	p.Ser66Cys	missense variant	-	NC_000003.12:g.30644849C>G	gnomAD
rs1060501985	p.Met68Leu	missense variant	-	NC_000003.12:g.30644854A>C	TOPMed,gnomAD
rs1060501985	p.Met68Val	missense variant	-	NC_000003.12:g.30644854A>G	TOPMed,gnomAD
RCV000459768	p.Met68Leu	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644854A>C	ClinVar
rs1405785027	p.Asn70Lys	missense variant	-	NC_000003.12:g.30644862C>A	gnomAD
rs1405785027	p.Asn70Lys	missense variant	-	NC_000003.12:g.30644862C>G	gnomAD
COSM4733376	p.Cys71Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30644864G>A	NCI-TCGA Cosmic
RCV000472675	p.Ser72Asn	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644867G>A	ClinVar
rs764941621	p.Ser72Asn	missense variant	-	NC_000003.12:g.30644867G>A	TOPMed
VAR_036070	p.Ile73Val	Missense	-	-	UniProt
NCI-TCGA novel	p.Thr74Ala	missense variant	-	NC_000003.12:g.30644872A>G	NCI-TCGA
rs754370908	p.Ile76Val	missense variant	-	NC_000003.12:g.30644878A>G	ExAC,TOPMed,gnomAD
rs754370908	p.Ile76Leu	missense variant	-	NC_000003.12:g.30644878A>C	ExAC,TOPMed,gnomAD
COSM1043509	p.Cys77Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30644881T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys77Ser	missense variant	-	NC_000003.12:g.30644881T>A	NCI-TCGA
NCI-TCGA novel	p.Glu78Lys	missense variant	-	NC_000003.12:g.30644884G>A	NCI-TCGA
NCI-TCGA novel	p.Glu78Asp	missense variant	-	NC_000003.12:g.30644886G>T	NCI-TCGA
rs765447350	p.Gln81His	missense variant	-	NC_000003.12:g.30644895G>T	ExAC,gnomAD
rs1215812419	p.Trp88Ter	stop gained	-	NC_000003.12:g.30650270G>A	NCI-TCGA Cosmic
rs1215812419	p.Trp88Ter	stop gained	-	NC_000003.12:g.30650270G>A	gnomAD
RCV000773917	p.Asn91Thr	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650278A>C	ClinVar
rs766473954	p.Glu93Lys	missense variant	-	NC_000003.12:g.30650283G>A	ExAC,gnomAD
rs1182342277	p.Glu93Gly	missense variant	-	NC_000003.12:g.30650284A>G	gnomAD
rs1242885838	p.Ile95Val	missense variant	-	NC_000003.12:g.30650289A>G	gnomAD
NCI-TCGA novel	p.Thr96Ala	missense variant	-	NC_000003.12:g.30650292A>G	NCI-TCGA
rs1223065891	p.Leu97Val	missense variant	-	NC_000003.12:g.30650295C>G	TOPMed
rs1473367944	p.Glu98Gly	missense variant	-	NC_000003.12:g.30650299A>G	gnomAD
rs863223837	p.Thr99Ile	missense variant	-	NC_000003.12:g.30650302C>T	gnomAD
RCV000199130	p.Thr99Ile	missense variant	-	NC_000003.12:g.30650302C>T	ClinVar
rs144137785	p.Cys101Tyr	missense variant	-	NC_000003.12:g.30650308G>A	ESP,TOPMed
rs777472799	p.His102Leu	missense variant	-	NC_000003.12:g.30650311A>T	ExAC,gnomAD
COSM446339	p.Asp103Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30650313G>A	NCI-TCGA Cosmic
RCV000030550	p.Pro104Ser	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30650316C>T	ClinVar
rs193922665	p.Pro104Thr	missense variant	-	NC_000003.12:g.30650316C>A	TOPMed,gnomAD
rs193922665	p.Pro104Ser	missense variant	-	NC_000003.12:g.30650316C>T	TOPMed,gnomAD
COSM3408578	p.Lys105Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30650320A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys105SerPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30650315C>-	NCI-TCGA
rs756999639	p.Tyr108His	missense variant	-	NC_000003.12:g.30650328T>C	ExAC,gnomAD
RCV000521998	p.His109Leu	missense variant	-	NC_000003.12:g.30650332A>T	ClinVar
rs1553627759	p.His109Leu	missense variant	-	NC_000003.12:g.30650332A>T	-
rs778838598	p.His109Asp	missense variant	-	NC_000003.12:g.30650331C>G	ExAC,gnomAD
rs778838598	p.His109Asn	missense variant	-	NC_000003.12:g.30650331C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile112Val	missense variant	-	NC_000003.12:g.30650340A>G	NCI-TCGA
rs771551560	p.Glu114Gln	missense variant	-	NC_000003.12:g.30650346G>C	ExAC,TOPMed,gnomAD
rs779603895	p.Ala116Asp	missense variant	-	NC_000003.12:g.30650353C>A	ExAC,TOPMed,gnomAD
rs779603895	p.Ala116Val	missense variant	-	NC_000003.12:g.30650353C>T	ExAC,TOPMed,gnomAD
rs540920930	p.Ser118Pro	missense variant	-	NC_000003.12:g.30650358T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser118Phe	missense variant	-	NC_000003.12:g.30650359C>T	NCI-TCGA
rs1347722182	p.Pro119Ser	missense variant	-	NC_000003.12:g.30650361C>T	TOPMed
rs1263124193	p.Met123Ile	missense variant	-	NC_000003.12:g.30650375G>A	NCI-TCGA
RCV000253449	p.Met123Leu	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650373A>T	ClinVar
rs768385200	p.Met123Leu	missense variant	-	NC_000003.12:g.30650373A>T	ExAC,TOPMed,gnomAD
rs1202323737	p.Met123Lys	missense variant	-	NC_000003.12:g.30650374T>A	gnomAD
rs1263124193	p.Met123Ile	missense variant	-	NC_000003.12:g.30650375G>A	gnomAD
rs776374040	p.Lys124Met	missense variant	-	NC_000003.12:g.30650377A>T	ExAC,gnomAD
rs776374040	p.Lys124Arg	missense variant	-	NC_000003.12:g.30650377A>G	ExAC,gnomAD
rs762282124	p.Glu125Gly	missense variant	-	NC_000003.12:g.30650380A>G	ExAC,TOPMed,gnomAD
rs1389197358	p.Glu125Lys	missense variant	-	NC_000003.12:g.30650379G>A	TOPMed
COSM1043513	p.Lys126Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30650383A>C	NCI-TCGA Cosmic
RCV000617551	p.Lys128Ter	frameshift	-	NC_000003.12:g.30650389del	ClinVar
RCV000559144	p.Lys128Ter	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650389del	ClinVar
RCV000680445	p.Lys128Ter	frameshift	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30650389del	ClinVar
rs752580104	p.Lys128SerPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30650380A>-	NCI-TCGA,NCI-TCGA Cosmic
rs770216059	p.Pro129Ala	missense variant	-	NC_000003.12:g.30650391C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly130Val	missense variant	-	NC_000003.12:g.30650395G>T	NCI-TCGA
NCI-TCGA novel	p.Gly130Cys	missense variant	-	NC_000003.12:g.30650394G>T	NCI-TCGA
rs146497045	p.Thr132Ala	missense variant	-	NC_000003.12:g.30650400A>G	NCI-TCGA
rs1402755105	p.Thr132Ile	missense variant	-	NC_000003.12:g.30650401C>T	gnomAD
RCV000654796	p.Thr132Ala	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650400A>G	ClinVar
rs146497045	p.Thr132Ala	missense variant	-	NC_000003.12:g.30650400A>G	ESP,ExAC,TOPMed,gnomAD
rs377455599	p.Met135Val	missense variant	-	NC_000003.12:g.30650409A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000768108	p.Cys138Tyr	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30650419G>A	ClinVar
rs863223838	p.Cys138Gly	missense variant	-	NC_000003.12:g.30650418T>G	TOPMed,gnomAD
RCV000509415	p.Cys138Gly	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30650418T>G	ClinVar
rs1199303428	p.Glu142Lys	missense variant	-	NC_000003.12:g.30650430G>A	TOPMed
rs759498108	p.Asn144His	missense variant	-	NC_000003.12:g.30650436A>C	ExAC,gnomAD
rs767805920	p.Asp145Glu	missense variant	-	NC_000003.12:g.30650441C>G	ExAC,gnomAD
rs863223836	p.Asn146Ser	missense variant	-	NC_000003.12:g.30650443A>G	gnomAD
rs1042058790	p.Asn146Lys	missense variant	-	NC_000003.12:g.30650444C>A	TOPMed,gnomAD
RCV000196640	p.Asn146Ser	missense variant	-	NC_000003.12:g.30650443A>G	ClinVar
NCI-TCGA novel	p.Phe149Leu	missense variant	-	NC_000003.12:g.30650453C>A	NCI-TCGA
rs1346274891	p.Ser150Pro	missense variant	-	NC_000003.12:g.30650454T>C	TOPMed,gnomAD
RCV000537553	p.Ser150Pro	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650454T>C	ClinVar
NCI-TCGA novel	p.Ser150Ter	stop gained	-	NC_000003.12:g.30650455C>G	NCI-TCGA
rs757051948	p.Glu151Val	missense variant	-	NC_000003.12:g.30650458A>T	ExAC,TOPMed,gnomAD
rs778675253	p.Glu152Ter	stop gained	-	NC_000003.12:g.30650460G>T	ExAC,TOPMed,gnomAD
rs778675253	p.Glu152Lys	missense variant	-	NC_000003.12:g.30650460G>A	ExAC,TOPMed,gnomAD
RCV000200587	p.Glu152Lys	missense variant	-	NC_000003.12:g.30650460G>A	ClinVar
RCV000777996	p.Thr155Ile	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671647C>T	ClinVar
rs727504406	p.Thr155Ile	missense variant	-	NC_000003.12:g.30671647C>T	ExAC,gnomAD
rs1014929115	p.Asn157Ser	missense variant	-	NC_000003.12:g.30671653A>G	TOPMed
rs1203996192	p.Asn157Tyr	missense variant	-	NC_000003.12:g.30671652A>T	gnomAD
RCV000405237	p.Pro158Ser	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30671655C>T	ClinVar
rs886058303	p.Pro158Ser	missense variant	-	NC_000003.12:g.30671655C>T	-
RCV000295388	p.Pro158Ser	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671655C>T	ClinVar
RCV000335327	p.Pro158Ser	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30671655C>T	ClinVar
rs891238058	p.Asp159Ala	missense variant	-	NC_000003.12:g.30671659A>C	TOPMed
rs1252013911	p.Leu160Ser	missense variant	-	NC_000003.12:g.30671662T>C	gnomAD
rs1385327750	p.Leu162Pro	missense variant	-	NC_000003.12:g.30671668T>C	gnomAD
rs770804409	p.Gln166Arg	missense variant	-	NC_000003.12:g.30671680A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln166Ter	stop gained	-	NC_000003.12:g.30671679C>T	NCI-TCGA
RCV000476748	p.Val167Ala	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671683T>C	ClinVar
rs1266079634	p.Val167Met	missense variant	-	NC_000003.12:g.30671682G>A	gnomAD
rs779052721	p.Val167Ala	missense variant	-	NC_000003.12:g.30671683T>C	ExAC,gnomAD
rs779052721	p.Val167Gly	missense variant	-	NC_000003.12:g.30671683T>G	ExAC,gnomAD
rs1177473314	p.Thr168Ile	missense variant	-	NC_000003.12:g.30671686C>T	gnomAD
rs759362407	p.Gly169Arg	missense variant	-	NC_000003.12:g.30671688G>C	ExAC,TOPMed,gnomAD
rs767581059	p.Ser171Gly	missense variant	-	NC_000003.12:g.30671694A>G	ExAC,gnomAD
RCV000547310	p.Ser171Gly	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671694A>G	ClinVar
rs1371331911	p.Leu172Phe	missense variant	-	NC_000003.12:g.30671697C>T	gnomAD
rs752627750	p.Leu172Pro	missense variant	-	NC_000003.12:g.30671698T>C	ExAC,gnomAD
rs1387250073	p.Pro175Leu	missense variant	-	NC_000003.12:g.30671707C>T	gnomAD
RCV000521506	p.Val178Asp	missense variant	-	NC_000003.12:g.30671716T>A	ClinVar
rs1553630079	p.Val178Asp	missense variant	-	NC_000003.12:g.30671716T>A	-
rs763513004	p.Ser181Tyr	missense variant	-	NC_000003.12:g.30671725C>A	ExAC,gnomAD
rs376358046	p.Val182Ile	missense variant	-	NC_000003.12:g.30671727G>A	ESP,ExAC,TOPMed,gnomAD
rs863223839	p.Ile184Asn	missense variant	-	NC_000003.12:g.30671734T>A	-
rs1371905176	p.Ile184Phe	missense variant	-	NC_000003.12:g.30671733A>T	TOPMed,gnomAD
rs1371905176	p.Ile184Leu	missense variant	-	NC_000003.12:g.30671733A>C	TOPMed,gnomAD
rs863223839	p.Ile184Asn	missense variant	-	NC_000003.12:g.30671734T>A	NCI-TCGA Cosmic
RCV000196769	p.Ile184Asn	missense variant	-	NC_000003.12:g.30671734T>A	ClinVar
RCV000466091	p.Phe186Ile	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671739T>A	ClinVar
rs368346624	p.Phe186Ile	missense variant	-	NC_000003.12:g.30671739T>A	ESP,ExAC,TOPMed,gnomAD
RCV000481213	p.Phe186Ile	missense variant	-	NC_000003.12:g.30671739T>A	ClinVar
rs973407277	p.Cys188Arg	missense variant	-	NC_000003.12:g.30671745T>C	TOPMed
rs973407277	p.Cys188Gly	missense variant	-	NC_000003.12:g.30671745T>G	TOPMed
RCV000455175	p.Arg190His	missense variant	-	NC_000003.12:g.30671752G>A	ClinVar
rs758703490	p.Arg190Cys	missense variant	-	NC_000003.12:g.30671751C>T	NCI-TCGA
rs780542125	p.Arg190His	missense variant	-	NC_000003.12:g.30671752G>A	ExAC,TOPMed,gnomAD
rs758703490	p.Arg190Cys	missense variant	-	NC_000003.12:g.30671751C>T	ExAC,gnomAD
RCV000765720	p.Arg190His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30671752G>A	ClinVar
RCV000228364	p.Val191Ile	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671754G>A	ClinVar
rs56105708	p.Val191Ile	missense variant	-	NC_000003.12:g.30671754G>A	UniProt,dbSNP
VAR_017606	p.Val191Ile	missense variant	-	NC_000003.12:g.30671754G>A	UniProt
rs56105708	p.Val191Ile	missense variant	-	NC_000003.12:g.30671754G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1270027856	p.Asn192Lys	missense variant	-	NC_000003.12:g.30671759C>A	gnomAD
rs61762550	p.Arg193Trp	missense variant	-	NC_000003.12:g.30671760C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748437880	p.Arg193Gln	missense variant	-	NC_000003.12:g.30671761G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln195Ter	stop gained	-	NC_000003.12:g.30671766C>T	NCI-TCGA
rs1431838247	p.Ser199Leu	missense variant	-	NC_000003.12:g.30671779C>T	gnomAD
COSM3823640	p.Thr200Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671781A>G	NCI-TCGA Cosmic
rs1162997625	p.Trp201Arg	missense variant	-	NC_000003.12:g.30671784T>A	gnomAD
rs773431795	p.Gly204Ser	missense variant	-	NC_000003.12:g.30671793G>A	ExAC,TOPMed,gnomAD
rs150022335	p.Thr206Met	missense variant	-	NC_000003.12:g.30671800C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000037738	p.Thr206Met	missense variant	-	NC_000003.12:g.30671800C>T	ClinVar
rs1295365314	p.Thr206Ala	missense variant	-	NC_000003.12:g.30671799A>G	gnomAD
rs775640617	p.Arg207Trp	missense variant	-	NC_000003.12:g.30671802C>T	NCI-TCGA
rs775640617	p.Arg207Trp	missense variant	-	NC_000003.12:g.30671802C>T	ExAC,gnomAD
rs371209879	p.Arg207Gln	missense variant	-	NC_000003.12:g.30671803G>A	NCI-TCGA,NCI-TCGA Cosmic
rs371209879	p.Arg207Gln	missense variant	-	NC_000003.12:g.30671803G>A	ESP,ExAC,TOPMed,gnomAD
RCV000772797	p.Arg207Gln	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671803G>A	ClinVar
rs1288771489	p.Leu209Val	missense variant	-	NC_000003.12:g.30671808C>G	TOPMed,gnomAD
rs1288771489	p.Leu209Phe	missense variant	-	NC_000003.12:g.30671808C>T	TOPMed,gnomAD
rs763709160	p.Met210Val	missense variant	-	NC_000003.12:g.30671811A>G	ExAC,gnomAD
rs1427971419	p.Ser213Asn	missense variant	-	NC_000003.12:g.30671821G>A	TOPMed
rs764821003	p.Glu214Lys	missense variant	-	NC_000003.12:g.30671823G>A	NCI-TCGA
rs764821003	p.Glu214Lys	missense variant	-	NC_000003.12:g.30671823G>A	ExAC,TOPMed,gnomAD
rs758827786	p.His215Gln	missense variant	-	NC_000003.12:g.30671828C>G	ExAC,gnomAD
RCV000654786	p.His215Gln	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671828C>G	ClinVar
rs1249003122	p.His215Asn	missense variant	-	NC_000003.12:g.30671826C>A	gnomAD
rs1252128858	p.His215Arg	missense variant	-	NC_000003.12:g.30671827A>G	TOPMed
RCV000242279	p.Ala217Pro	missense variant	-	NC_000003.12:g.30671832G>C	ClinVar
rs149141477	p.Ala217Pro	missense variant	-	NC_000003.12:g.30671832G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000660320	p.Ala217Pro	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671832G>C	ClinVar
rs752110046	p.Ile218Val	missense variant	-	NC_000003.12:g.30671835A>G	ExAC,gnomAD
RCV000536041	p.Leu220Pro	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671842T>C	ClinVar
rs1553630112	p.Leu220Pro	missense variant	-	NC_000003.12:g.30671842T>C	-
COSM3373143	p.Asp222Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671848A>G	NCI-TCGA Cosmic
rs781692282	p.Asp223Asn	missense variant	-	NC_000003.12:g.30671850G>A	ExAC,gnomAD
rs112465572	p.Arg224His	missense variant	-	NC_000003.12:g.30671854G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748195637	p.Arg224Cys	missense variant	-	NC_000003.12:g.30671853C>T	ExAC,TOPMed,gnomAD
RCV000773801	p.Arg224His	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671854G>A	ClinVar
rs202056618	p.Ile227Val	missense variant	-	NC_000003.12:g.30671862A>G	1000Genomes
NCI-TCGA novel	p.Ile227Met	missense variant	-	NC_000003.12:g.30671864C>G	NCI-TCGA
RCV000770346	p.Ser228Ile	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671866G>T	ClinVar
rs772053650	p.Ser229Thr	missense variant	-	NC_000003.12:g.30671868T>A	ExAC,gnomAD
rs150116445	p.Thr230Met	missense variant	-	NC_000003.12:g.30671872C>T	ESP,ExAC,TOPMed,gnomAD
RCV000195779	p.Asn234Ile	missense variant	-	NC_000003.12:g.30671884A>T	ClinVar
rs863223840	p.Asn234Ile	missense variant	-	NC_000003.12:g.30671884A>T	-
COSM4116798	p.Thr239Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671898A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile244Phe	missense variant	-	NC_000003.12:g.30671913A>T	NCI-TCGA
rs761231369	p.Asp247Val	missense variant	-	NC_000003.12:g.30671923A>T	ExAC,TOPMed,gnomAD
COSM4509824	p.Thr248Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671926C>T	NCI-TCGA Cosmic
rs1208408166	p.Thr248Ala	missense variant	-	NC_000003.12:g.30671925A>G	gnomAD
rs1173580610	p.Val250Leu	missense variant	-	NC_000003.12:g.30671931G>T	TOPMed
COSM4414155	p.Gly251Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671934G>A	NCI-TCGA Cosmic
rs1472336039	p.Lys252Arg	missense variant	-	NC_000003.12:g.30671938A>G	gnomAD
rs1160016010	p.Lys252Asn	missense variant	-	NC_000003.12:g.30671939A>C	gnomAD
RCV000762369	p.Gly253Ser	missense variant	-	NC_000003.12:g.30671940G>A	ClinVar
RCV000198902	p.Arg254Cys	missense variant	-	NC_000003.12:g.30671943C>T	ClinVar
RCV000525396	p.Arg254Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671943C>T	ClinVar
rs751948498	p.Arg254His	missense variant	-	NC_000003.12:g.30671944G>A	NCI-TCGA,NCI-TCGA Cosmic
rs751948498	p.Arg254His	missense variant	-	NC_000003.12:g.30671944G>A	ExAC,TOPMed,gnomAD
rs863223856	p.Arg254Cys	missense variant	-	NC_000003.12:g.30671943C>T	-
COSM6164531	p.Glu257Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671954G>C	NCI-TCGA Cosmic
rs184297150	p.Val258Leu	missense variant	-	NC_000003.12:g.30671955G>C	1000Genomes
rs869025536	p.Val258Asp	missense variant	-	NC_000003.12:g.30671956T>A	-
RCV000208008	p.Val258Asp	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30671956T>A	ClinVar
rs755317450	p.Tyr259His	missense variant	-	NC_000003.12:g.30671958T>C	ExAC,gnomAD
rs767919854	p.Tyr259Cys	missense variant	-	NC_000003.12:g.30671959A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys262GlnPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30671964_30671965insC	NCI-TCGA
COSM3696026	p.Gln265Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30671976C>T	NCI-TCGA Cosmic
rs1412125264	p.Gln265His	missense variant	-	NC_000003.12:g.30671978G>T	TOPMed
rs753184709	p.Asn266Ser	missense variant	-	NC_000003.12:g.30671980A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr267IlePheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30671983C>-	NCI-TCGA
rs139078984	p.Ser268Leu	missense variant	-	NC_000003.12:g.30671986C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu269Lys	missense variant	-	NC_000003.12:g.30671988G>A	NCI-TCGA
rs1415684178	p.Thr273Ile	missense variant	-	NC_000003.12:g.30672001C>T	TOPMed
rs1228411775	p.Val274Ala	missense variant	-	NC_000003.12:g.30672004T>C	gnomAD
rs757521476	p.Ala275Ser	missense variant	-	NC_000003.12:g.30672006G>T	ExAC,gnomAD
rs200679764	p.Val276Gly	missense variant	-	NC_000003.12:g.30672010T>G	gnomAD
rs886038794	p.Lys277Asn	missense variant	-	NC_000003.12:g.30672014G>T	-
COSM730358	p.Lys277Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672012A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys277Met	missense variant	-	NC_000003.12:g.30672013A>T	NCI-TCGA
RCV000244146	p.Lys277Asn	missense variant	-	NC_000003.12:g.30672014G>T	ClinVar
rs886038794	p.Lys277Asn	missense variant	-	NC_000003.12:g.30672014G>T	NCI-TCGA Cosmic
RCV000698826	p.Ile278Phe	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672015A>T	ClinVar
rs746824357	p.Phe279Leu	missense variant	-	NC_000003.12:g.30672018T>C	ExAC,TOPMed,gnomAD
rs1318654289	p.Phe279Ser	missense variant	-	NC_000003.12:g.30672019T>C	TOPMed,gnomAD
rs1210616464	p.Tyr281Cys	missense variant	-	NC_000003.12:g.30672025A>G	TOPMed
NCI-TCGA novel	p.Tyr281MetPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30672017C>-	NCI-TCGA
rs1210616464	p.Tyr281Cys	missense variant	-	NC_000003.12:g.30672025A>G	NCI-TCGA
rs1249816685	p.Glu283Asp	missense variant	-	NC_000003.12:g.30672032G>C	gnomAD
rs374708133	p.Tyr284Cys	missense variant	-	NC_000003.12:g.30672034A>G	ESP,ExAC,gnomAD
rs776497237	p.Ala285Thr	missense variant	-	NC_000003.12:g.30672036G>A	ExAC,gnomAD
rs727503472	p.Trp287Arg	missense variant	-	NC_000003.12:g.30672042T>C	-
NCI-TCGA novel	p.Trp287Cys	missense variant	-	NC_000003.12:g.30672044G>C	NCI-TCGA
RCV000152004	p.Trp287Arg	missense variant	-	NC_000003.12:g.30672042T>C	ClinVar
COSM1309022	p.Glu290Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672051G>A	NCI-TCGA Cosmic
rs1254102909	p.Asp292Asn	missense variant	-	NC_000003.12:g.30672057G>A	gnomAD
rs1260260285	p.Ile293Thr	missense variant	-	NC_000003.12:g.30672061T>C	TOPMed
rs748102367	p.Ile293Val	missense variant	-	NC_000003.12:g.30672060A>G	ExAC,TOPMed,gnomAD
COSM730357	p.Ser295Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30672067C>G	NCI-TCGA Cosmic
rs1365040421	p.Ser295Leu	missense variant	-	NC_000003.12:g.30672067C>T	gnomAD
NCI-TCGA novel	p.Asp296Tyr	missense variant	-	NC_000003.12:g.30672069G>T	NCI-TCGA
rs772678321	p.Ile297Val	missense variant	-	NC_000003.12:g.30672072A>G	ExAC,gnomAD
rs751587466	p.Asn298Ile	missense variant	-	NC_000003.12:g.30672076A>T	ExAC,TOPMed,gnomAD
rs751587466	p.Asn298Ser	missense variant	-	NC_000003.12:g.30672076A>G	ExAC,TOPMed,gnomAD
RCV000251947	p.His301Arg	missense variant	-	NC_000003.12:g.30672085A>G	ClinVar
rs863223857	p.His301Arg	missense variant	-	NC_000003.12:g.30672085A>G	-
RCV000200455	p.His301Arg	missense variant	-	NC_000003.12:g.30672085A>G	ClinVar
NCI-TCGA novel	p.Glu302Asp	missense variant	-	NC_000003.12:g.30672089G>T	NCI-TCGA
rs766038199	p.Glu302Val	missense variant	-	NC_000003.12:g.30672088A>T	ExAC,gnomAD
rs773932892	p.Asn303His	missense variant	-	NC_000003.12:g.30672090A>C	ExAC,gnomAD
rs1383281802	p.Ile304Val	missense variant	-	NC_000003.12:g.30672093A>G	gnomAD
rs1328891008	p.Ile304Thr	missense variant	-	NC_000003.12:g.30672094T>C	gnomAD
RCV000765721	p.Leu305Phe	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672096C>T	ClinVar
RCV000540262	p.Leu305Arg	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672097T>G	ClinVar
RCV000519818	p.Leu305Phe	missense variant	-	NC_000003.12:g.30672096C>T	ClinVar
rs1553630171	p.Leu305Phe	missense variant	-	NC_000003.12:g.30672096C>T	-
rs1553630174	p.Leu305Arg	missense variant	-	NC_000003.12:g.30672097T>G	-
COSM730356	p.Gln306Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30672099C>T	NCI-TCGA Cosmic
rs1274833112	p.Gln306His	missense variant	-	NC_000003.12:g.30672101G>C	gnomAD
VAR_066723	p.Gln306insHisGlu	deletion_insertion	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
RCV000013329	p.Leu308Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672106T>C	ClinVar
rs28934568	p.Leu308Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672106T>C	UniProt,dbSNP
VAR_022351	p.Leu308Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672106T>C	UniProt
rs28934568	p.Leu308Pro	missense variant	-	NC_000003.12:g.30672106T>C	-
rs202168735	p.Thr309Met	missense variant	-	NC_000003.12:g.30672109C>T	ESP,ExAC,gnomAD
RCV000660321	p.Ala310Thr	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672111G>A	ClinVar
rs1553630181	p.Ala310Thr	missense variant	-	NC_000003.12:g.30672111G>A	-
NCI-TCGA novel	p.Glu311Ala	missense variant	-	NC_000003.12:g.30672115A>C	NCI-TCGA
rs397516841	p.Glu312Lys	missense variant	-	NC_000003.12:g.30672117G>A	-
RCV000037739	p.Glu312Lys	missense variant	-	NC_000003.12:g.30672117G>A	ClinVar
rs200361387	p.Arg313Leu	missense variant	-	NC_000003.12:g.30672121G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200361387	p.Arg313Pro	missense variant	-	NC_000003.12:g.30672121G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200361387	p.Arg313Gln	missense variant	-	NC_000003.12:g.30672121G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs55751315	p.Arg313Trp	missense variant	-	NC_000003.12:g.30672120C>T	TOPMed,gnomAD
RCV000626289	p.Thr315Met	missense variant	Familial colorectal cancer (CRC)	NC_000003.12:g.30672127C>T	ClinVar
rs34833812	p.Thr315Met	missense variant	Hereditary non-polyposis colorectal cancer 6 (HNPCC6)	NC_000003.12:g.30672127C>T	UniProt,dbSNP
VAR_008156	p.Thr315Met	missense variant	Hereditary non-polyposis colorectal cancer 6 (HNPCC6)	NC_000003.12:g.30672127C>T	UniProt
rs34833812	p.Thr315Met	missense variant	-	NC_000003.12:g.30672127C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu316GlyPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30672127_30672128insG	NCI-TCGA
NCI-TCGA novel	p.Leu317Phe	missense variant	-	NC_000003.12:g.30672134G>T	NCI-TCGA
rs754785934	p.Gly318Ala	missense variant	-	NC_000003.12:g.30672136G>C	ExAC,TOPMed
RCV000660322	p.Tyr321Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672145A>G	ClinVar
rs1553630191	p.Tyr321Cys	missense variant	-	NC_000003.12:g.30672145A>G	-
rs863223858	p.Trp322Gly	missense variant	-	NC_000003.12:g.30672147T>G	-
rs1335113103	p.Trp322Cys	missense variant	-	NC_000003.12:g.30672149G>C	gnomAD
rs1335113103	p.Trp322Ter	stop gained	-	NC_000003.12:g.30672149G>A	gnomAD
RCV000197001	p.Trp322Gly	missense variant	-	NC_000003.12:g.30672147T>G	ClinVar
RCV000238729	p.Leu323Val	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672150C>G	ClinVar
COSM185096	p.Leu323Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672151T>C	NCI-TCGA Cosmic
rs781018006	p.Leu323Val	missense variant	-	NC_000003.12:g.30672150C>G	ExAC,gnomAD
VAR_076169	p.Thr325Pro	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
rs769750420	p.Ala326Thr	missense variant	-	NC_000003.12:g.30672159G>A	ExAC,gnomAD
rs769750420	p.Ala326Thr	missense variant	-	NC_000003.12:g.30672159G>A	NCI-TCGA
rs1429960106	p.Phe327Leu	missense variant	-	NC_000003.12:g.30672164C>G	gnomAD
COSM12936	p.His328Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672165C>T	NCI-TCGA Cosmic
rs193922666	p.His328Gln	missense variant	-	NC_000003.12:g.30672167C>A	1000Genomes,ExAC,TOPMed,gnomAD
VAR_041415	p.His328Tyr	Missense	-	-	UniProt
rs148665451	p.Ala329Thr	missense variant	-	NC_000003.12:g.30672168G>A	ESP,ExAC,TOPMed,gnomAD
RCV000148892	p.Ala329Thr	missense variant	Loeys-Dietz syndrome 1 (LDS1)	NC_000003.12:g.30672168G>A	ClinVar
rs376752333	p.Ala329Val	missense variant	-	NC_000003.12:g.30672169C>T	ESP,ExAC,TOPMed,gnomAD
RCV000198010	p.Ala329Thr	missense variant	-	NC_000003.12:g.30672168G>A	ClinVar
rs1332138742	p.Gly331Asp	missense variant	-	NC_000003.12:g.30672175G>A	gnomAD
rs759215875	p.Gly331Ser	missense variant	-	NC_000003.12:g.30672174G>A	ExAC,gnomAD
rs863223841	p.Leu333Gln	missense variant	-	NC_000003.12:g.30672181T>A	-
RCV000199560	p.Leu333Gln	missense variant	-	NC_000003.12:g.30672181T>A	ClinVar
rs775897166	p.Gln334Leu	missense variant	-	NC_000003.12:g.30672184A>T	ExAC,gnomAD
rs775897166	p.Gln334Arg	missense variant	-	NC_000003.12:g.30672184A>G	ExAC,gnomAD
RCV000546745	p.Tyr336Asp	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672189T>G	ClinVar
rs104893812	p.Tyr336Asp	missense variant	-	NC_000003.12:g.30672189T>G	-
rs104893812	p.Tyr336Asn	missense variant	-	NC_000003.12:g.30672189T>A	-
rs104893812	p.Tyr336Asn	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672189T>A	UniProt,dbSNP
VAR_022352	p.Tyr336Asn	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672189T>A	UniProt
RCV000013332	p.Tyr336Asn	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672189T>A	ClinVar
rs752866783	p.Thr338Met	missense variant	-	NC_000003.12:g.30672196C>T	TOPMed,gnomAD
rs752866783	p.Thr338Lys	missense variant	-	NC_000003.12:g.30672196C>A	TOPMed,gnomAD
rs761991787	p.Arg339Trp	missense variant	-	NC_000003.12:g.30672198C>T	ExAC,TOPMed,gnomAD
rs727503473	p.Arg339Pro	missense variant	-	NC_000003.12:g.30672199G>C	ExAC,TOPMed,gnomAD
RCV000198865	p.Arg339Leu	missense variant	-	NC_000003.12:g.30672199G>T	ClinVar
RCV000152005	p.Arg339Pro	missense variant	-	NC_000003.12:g.30672199G>C	ClinVar
RCV000808510	p.Arg339Pro	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672199G>C	ClinVar
rs727503473	p.Arg339Gln	missense variant	-	NC_000003.12:g.30672199G>A	ExAC,TOPMed,gnomAD
rs727503473	p.Arg339Leu	missense variant	-	NC_000003.12:g.30672199G>T	ExAC,TOPMed,gnomAD
RCV000781901	p.Arg339Trp	missense variant	-	NC_000003.12:g.30672198C>T	ClinVar
rs750658746	p.Ile342Phe	missense variant	-	NC_000003.12:g.30672207A>T	ExAC,gnomAD
rs758614833	p.Ser343Gly	missense variant	-	NC_000003.12:g.30672210A>G	ExAC,gnomAD
rs144701411	p.Arg348Cys	missense variant	-	NC_000003.12:g.30672225C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000263258	p.Arg348Cys	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30672225C>T	ClinVar
rs369450067	p.Arg348His	missense variant	-	NC_000003.12:g.30672226G>A	ESP,ExAC,TOPMed,gnomAD
RCV000809072	p.Arg348His	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672226G>A	ClinVar
RCV000315631	p.Arg348Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672225C>T	ClinVar
RCV000354050	p.Arg348Cys	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672225C>T	ClinVar
RCV000498047	p.Arg348His	missense variant	-	NC_000003.12:g.30672226G>A	ClinVar
rs369450067	p.Arg348His	missense variant	-	NC_000003.12:g.30672226G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000624764	p.Gly351Arg	missense variant	Inborn genetic diseases	NC_000003.12:g.30672234G>C	ClinVar
rs869025537	p.Gly351Asp	missense variant	-	NC_000003.12:g.30672235G>A	-
rs1553630221	p.Gly351Arg	missense variant	-	NC_000003.12:g.30672234G>C	-
RCV000208228	p.Gly351Asp	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672235G>A	ClinVar
RCV000557035	p.Ser353Phe	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672241C>T	ClinVar
rs1553630235	p.Ser353Phe	missense variant	-	NC_000003.12:g.30672241C>T	-
rs777689025	p.Leu354Ile	missense variant	-	NC_000003.12:g.30672243C>A	ExAC
RCV000426608	p.Ala355Thr	missense variant	-	NC_000003.12:g.30672246G>A	ClinVar
rs104893813	p.Ala355Thr	missense variant	-	NC_000003.12:g.30672246G>A	ExAC,TOPMed,gnomAD
rs104893813	p.Ala355Ser	missense variant	-	NC_000003.12:g.30672246G>T	ExAC,TOPMed,gnomAD
rs104893813	p.Ala355Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672246G>C	UniProt,dbSNP
VAR_022353	p.Ala355Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672246G>C	UniProt
rs778467588	p.Ala355Val	missense variant	-	NC_000003.12:g.30672247C>T	ExAC,TOPMed,gnomAD
rs104893813	p.Ala355Pro	missense variant	-	NC_000003.12:g.30672246G>C	ExAC,TOPMed,gnomAD
RCV000013333	p.Ala355Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672246G>C	ClinVar
RCV000154307	p.Arg356Pro	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672250G>C	ClinVar
rs727504292	p.Arg356Gln	missense variant	-	NC_000003.12:g.30672250G>A	ExAC,TOPMed,gnomAD
rs199660234	p.Arg356Trp	missense variant	-	NC_000003.12:g.30672249C>T	ExAC,TOPMed,gnomAD
RCV000624184	p.Arg356Pro	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672250G>C	ClinVar
RCV000805236	p.Arg356Pro	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672250G>C	ClinVar
rs199660234	p.Arg356Trp	missense variant	-	NC_000003.12:g.30672249C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199660234	p.Arg356Gly	missense variant	-	NC_000003.12:g.30672249C>G	ExAC,TOPMed,gnomAD
rs727504292	p.Arg356Gln	missense variant	-	NC_000003.12:g.30672250G>A	NCI-TCGA,NCI-TCGA Cosmic
rs727504292	p.Arg356Pro	missense variant	-	NC_000003.12:g.30672250G>C	ExAC,TOPMed,gnomAD
RCV000489285	p.Arg356Trp	missense variant	-	NC_000003.12:g.30672249C>T	ClinVar
RCV000197867	p.Arg356Gly	missense variant	-	NC_000003.12:g.30672249C>G	ClinVar
rs104893814	p.Gly357Trp	missense variant	-	NC_000003.12:g.30672252G>T	-
rs104893814	p.Gly357Trp	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672252G>T	UniProt,dbSNP
VAR_022354	p.Gly357Trp	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672252G>T	UniProt
rs370995723	p.Gly357Ala	missense variant	-	NC_000003.12:g.30672253G>C	ESP,ExAC,TOPMed,gnomAD
RCV000013334	p.Gly357Trp	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672252G>T	ClinVar
VAR_076170	p.Gly357Arg	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
NCI-TCGA novel	p.His360Pro	missense variant	-	NC_000003.12:g.30672262A>C	NCI-TCGA
rs189119533	p.His360Asp	missense variant	-	NC_000003.12:g.30672261C>G	1000Genomes,ExAC,gnomAD
COSM4116803	p.Leu361Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672264C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu361ThrPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30672263_30672266CCTC>-	NCI-TCGA
RCV000200101	p.His362Arg	missense variant	-	NC_000003.12:g.30672268A>G	ClinVar
rs863223842	p.His362Arg	missense variant	-	NC_000003.12:g.30672268A>G	-
rs149195553	p.Asp364Glu	missense variant	-	NC_000003.12:g.30672275T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244365502	p.Asp364His	missense variant	-	NC_000003.12:g.30672273G>C	gnomAD
rs777332888	p.Thr366Ala	missense variant	-	NC_000003.12:g.30672279A>G	ExAC,TOPMed,gnomAD
rs1226482581	p.Pro367Leu	missense variant	-	NC_000003.12:g.30672283C>T	gnomAD
rs765447250	p.Gly369Arg	missense variant	-	NC_000003.12:g.30672288G>C	ExAC,gnomAD
rs765447250	p.Gly369Trp	missense variant	-	NC_000003.12:g.30672288G>T	ExAC,gnomAD
rs550421922	p.Arg370Met	missense variant	-	NC_000003.12:g.30672292G>T	1000Genomes,ExAC,gnomAD
rs550421922	p.Arg370Lys	missense variant	-	NC_000003.12:g.30672292G>A	1000Genomes,ExAC,gnomAD
RCV000680612	p.Met373Ile	missense variant	Connective tissue disorder	NC_000003.12:g.30672302G>A	ClinVar
rs35719192	p.Met373Ile	missense variant	-	NC_000003.12:g.30672302G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000327596	p.Met373Ile	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30672302G>A	ClinVar
RCV000251845	p.Met373Ile	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672302G>A	ClinVar
RCV000617150	p.Met373Ile	missense variant	-	NC_000003.12:g.30672302G>A	ClinVar
RCV000424003	p.Pro374Leu	missense variant	-	NC_000003.12:g.30672304C>T	ClinVar
RCV000196206	p.Pro374Ser	missense variant	-	NC_000003.12:g.30672303C>T	ClinVar
rs863223843	p.Pro374Ser	missense variant	-	NC_000003.12:g.30672303C>T	-
rs1057524399	p.Pro374Leu	missense variant	-	NC_000003.12:g.30672304C>T	-
rs927452109	p.Ile375Val	missense variant	-	NC_000003.12:g.30672306A>G	TOPMed,gnomAD
RCV000457732	p.Val376Met	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672309G>A	ClinVar
rs755967723	p.Val376Met	missense variant	-	NC_000003.12:g.30672309G>A	ExAC,TOPMed,gnomAD
RCV000765724	p.Val376Met	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672309G>A	ClinVar
RCV000654794	p.His377Arg	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672313A>G	ClinVar
rs1553630274	p.His377Arg	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672313A>G	UniProt,dbSNP
VAR_066724	p.His377Arg	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672313A>G	UniProt
rs1553630274	p.His377Arg	missense variant	-	NC_000003.12:g.30672313A>G	-
rs886038847	p.Asp379Val	missense variant	-	NC_000003.12:g.30672319A>T	-
RCV000247764	p.Asp379Val	missense variant	-	NC_000003.12:g.30672319A>T	ClinVar
NCI-TCGA novel	p.Lys381Glu	missense variant	-	NC_000003.12:g.30672324A>G	NCI-TCGA
rs863223844	p.Ser382Asn	missense variant	-	NC_000003.12:g.30672328G>A	-
RCV000198413	p.Ser382Asn	missense variant	-	NC_000003.12:g.30672328G>A	ClinVar
RCV000589903	p.Asn384Lys	missense variant	-	NC_000003.12:g.30672335T>A	ClinVar
rs193922661	p.Asn384Lys	missense variant	-	NC_000003.12:g.30672335T>A	-
rs193922660	p.Asn384Ser	missense variant	-	NC_000003.12:g.30672334A>G	-
RCV000030542	p.Asn384Ser	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672334A>G	ClinVar
RCV000654811	p.Asn384Lys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672335T>A	ClinVar
rs137908708	p.Ile385Val	missense variant	-	NC_000003.12:g.30672336A>G	ESP,ExAC,TOPMed,gnomAD
RCV000250474	p.Ile385Val	missense variant	-	NC_000003.12:g.30672336A>G	ClinVar
RCV000822694	p.Ile385Val	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672336A>G	ClinVar
rs1400565122	p.Ile385Met	missense variant	-	NC_000003.12:g.30672338C>G	gnomAD
rs35766612	p.Val387Leu	missense variant	-	NC_000003.12:g.30672342G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35766612	p.Val387Met	missense variant	-	NC_000003.12:g.30672342G>A	UniProt,dbSNP
VAR_022355	p.Val387Met	missense variant	-	NC_000003.12:g.30672342G>A	UniProt
rs35766612	p.Val387Met	missense variant	-	NC_000003.12:g.30672342G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000509502	p.Val387Met	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672342G>A	ClinVar
RCV000249454	p.Val387Leu	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672342G>T	ClinVar
rs193922662	p.Lys388Arg	missense variant	-	NC_000003.12:g.30672346A>G	-
RCV000586639	p.Lys388Arg	missense variant	-	NC_000003.12:g.30672346A>G	ClinVar
RCV000654810	p.Lys388Arg	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672346A>G	ClinVar
rs1049576348	p.Asn389Ser	missense variant	-	NC_000003.12:g.30672349A>G	TOPMed
COSM5864275	p.Asp390Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672351G>A	NCI-TCGA Cosmic
rs779762218	p.Leu391Val	missense variant	-	NC_000003.12:g.30672354C>G	ExAC,gnomAD
COSM2983516	p.Cys393Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672361G>T	NCI-TCGA Cosmic
rs886039106	p.Cys393Tyr	missense variant	-	NC_000003.12:g.30672361G>A	-
RCV000253481	p.Cys393Tyr	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672361G>A	ClinVar
RCV000556671	p.Cys394Tyr	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672364G>A	ClinVar
rs1553630289	p.Cys394Tyr	missense variant	-	NC_000003.12:g.30672364G>A	-
rs863223846	p.Asp397Gly	missense variant	-	NC_000003.12:g.30672373A>G	-
rs863223845	p.Asp397Asn	missense variant	-	NC_000003.12:g.30672372G>A	-
RCV000200504	p.Asp397Gly	missense variant	-	NC_000003.12:g.30672373A>G	ClinVar
RCV000253663	p.Asp397Asn	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672372G>A	ClinVar
rs1036756776	p.Phe398Leu	missense variant	-	NC_000003.12:g.30672377T>G	TOPMed
COSM3592333	p.Ser401Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672385C>T	NCI-TCGA Cosmic
rs143095746	p.Arg403Leu	missense variant	-	NC_000003.12:g.30672391G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143095746	p.Arg403His	missense variant	-	NC_000003.12:g.30672391G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000397892	p.Arg403His	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672391G>A	ClinVar
RCV000198738	p.Arg403His	missense variant	-	NC_000003.12:g.30672391G>A	ClinVar
RCV000338480	p.Arg403His	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672391G>A	ClinVar
RCV000299880	p.Arg403His	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30672391G>A	ClinVar
rs886038960	p.Arg403Cys	missense variant	-	NC_000003.12:g.30672390C>T	TOPMed
rs143095746	p.Arg403His	missense variant	-	NC_000003.12:g.30672391G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000254401	p.Arg403Cys	missense variant	-	NC_000003.12:g.30672390C>T	ClinVar
RCV000765725	p.Arg403Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672390C>T	ClinVar
NCI-TCGA novel	p.Leu404Val	missense variant	-	NC_000003.12:g.30672393C>G	NCI-TCGA
RCV000197266	p.Pro406Leu	missense variant	-	NC_000003.12:g.30672400C>T	ClinVar
RCV000208444	p.Pro406Leu	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672400C>T	ClinVar
rs748480163	p.Pro406Leu	missense variant	-	NC_000003.12:g.30672400C>T	ExAC,gnomAD
RCV000699428	p.Thr407Ala	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672402A>G	ClinVar
rs896940233	p.Thr407Ile	missense variant	-	NC_000003.12:g.30672403C>T	TOPMed
rs896940233	p.Thr407Ser	missense variant	-	NC_000003.12:g.30672403C>G	TOPMed
rs770352403	p.Leu408Met	missense variant	-	NC_000003.12:g.30672405C>A	ExAC,gnomAD
RCV000680125	p.Leu413Gln	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672421T>A	ClinVar
NCI-TCGA novel	p.Ala414Thr	missense variant	-	NC_000003.12:g.30672423G>A	NCI-TCGA
rs1060501983	p.Ser416Gly	missense variant	-	NC_000003.12:g.30672429A>G	-
RCV000464518	p.Ser416Gly	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672429A>G	ClinVar
rs863223847	p.Val419Leu	missense variant	-	NC_000003.12:g.30674105G>T	-
rs863223848	p.Val419Glu	missense variant	-	NC_000003.12:g.30674106T>A	-
RCV000198137	p.Val419Leu	missense variant	-	NC_000003.12:g.30674105G>T	ClinVar
RCV000200367	p.Val419Glu	missense variant	-	NC_000003.12:g.30674106T>A	ClinVar
RCV000550146	p.Gly420Val	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674109G>T	ClinVar
rs1553630426	p.Gly420Val	missense variant	-	NC_000003.12:g.30674109G>T	-
RCV000243905	p.Thr421Ala	missense variant	-	NC_000003.12:g.30674111A>G	ClinVar
rs886038787	p.Thr421Ala	missense variant	-	NC_000003.12:g.30674111A>G	-
rs771094273	p.Arg423Gly	missense variant	-	NC_000003.12:g.30674117A>G	ExAC,gnomAD
RCV000234122	p.Tyr424Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674121A>G	ClinVar
RCV000756781	p.Tyr424His	missense variant	-	NC_000003.12:g.30674120T>C	ClinVar
rs878854610	p.Tyr424Cys	missense variant	-	NC_000003.12:g.30674121A>G	-
rs878854610	p.Tyr424Cys	missense variant	-	NC_000003.12:g.30674121A>G	NCI-TCGA
RCV000013342	p.Met425Val	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674123A>G	ClinVar
RCV000654801	p.Met425Thr	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674124T>C	ClinVar
rs104893817	p.Met425Val	missense variant	-	NC_000003.12:g.30674123A>G	-
COSM1309023	p.Met425Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30674125G>T	NCI-TCGA Cosmic
rs1553630438	p.Met425Thr	missense variant	-	NC_000003.12:g.30674124T>C	-
rs104893817	p.Met425Val	missense variant	-	NC_000003.12:g.30674123A>G	NCI-TCGA
RCV000157518	p.Ala426Val	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30674127C>T	ClinVar
RCV000199365	p.Ala426Asp	missense variant	-	NC_000003.12:g.30674127C>A	ClinVar
rs730880224	p.Ala426Asp	missense variant	-	NC_000003.12:g.30674127C>A	-
rs730880224	p.Ala426Val	missense variant	-	NC_000003.12:g.30674127C>T	-
rs863223849	p.Ala426Thr	missense variant	-	NC_000003.12:g.30674126G>A	-
rs863223849	p.Ala426Thr	missense variant	-	NC_000003.12:g.30674126G>A	NCI-TCGA Cosmic
RCV000197140	p.Ala426Thr	missense variant	-	NC_000003.12:g.30674126G>A	ClinVar
RCV000013343	p.Pro427Leu	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674130C>T	ClinVar
RCV000195460	p.Pro427Ser	missense variant	-	NC_000003.12:g.30674129C>T	ClinVar
rs863223850	p.Pro427Ser	missense variant	-	NC_000003.12:g.30674129C>T	-
rs104893818	p.Pro427Leu	missense variant	-	NC_000003.12:g.30674130C>T	-
RCV000037732	p.Glu428Gln	missense variant	-	NC_000003.12:g.30674132G>C	ClinVar
rs397516838	p.Glu428Gln	missense variant	-	NC_000003.12:g.30674132G>C	-
rs1371233083	p.Leu430Arg	missense variant	-	NC_000003.12:g.30674139T>G	gnomAD
rs1355658397	p.Met434Val	missense variant	-	NC_000003.12:g.30674150A>G	TOPMed
VAR_022356	p.Asn435Ser	Missense	-	-	UniProt
rs1050833	p.Val439Ala	missense variant	-	NC_000003.12:g.30674166T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu440LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30674165_30674166insTT	NCI-TCGA
NCI-TCGA novel	p.Glu440Lys	missense variant	-	NC_000003.12:g.30674168G>A	NCI-TCGA
COSM185101	p.Ser441Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30674172C>T	NCI-TCGA Cosmic
rs775637046	p.Gln444His	missense variant	-	NC_000003.12:g.30674182G>T	ExAC,gnomAD
rs886038936	p.Thr445Asn	missense variant	-	NC_000003.12:g.30674184C>A	-
RCV000687203	p.Thr445Asn	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674184C>A	ClinVar
RCV000243893	p.Thr445Asn	missense variant	-	NC_000003.12:g.30674184C>A	ClinVar
RCV000624602	p.Asp446Asn	missense variant	Loeys-Dietz syndrome 1 (LDS1)	NC_000003.12:g.30674186G>A	ClinVar
RCV000197000	p.Asp446Glu	missense variant	-	NC_000003.12:g.30674188T>G	ClinVar
rs863223851	p.Asp446Glu	missense variant	-	NC_000003.12:g.30674188T>G	-
rs886039551	p.Asp446Asn	missense variant	-	NC_000003.12:g.30674186G>A	-
RCV000692078	p.Asp446Asn	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674186G>A	ClinVar
rs886039551	p.Asp446Asn	missense variant	-	NC_000003.12:g.30674186G>A	NCI-TCGA Cosmic
rs750434928	p.Val447Ile	missense variant	-	NC_000003.12:g.30674189G>A	ExAC,gnomAD
VAR_022357	p.Val447Ala	Missense	-	-	UniProt
RCV000013330	p.Ser449Phe	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674196C>T	ClinVar
RCV000469243	p.Ser449Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674196C>G	ClinVar
rs104893807	p.Ser449Phe	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674196C>T	UniProt,dbSNP
VAR_022358	p.Ser449Phe	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674196C>T	UniProt
rs104893807	p.Ser449Phe	missense variant	-	NC_000003.12:g.30674196C>T	-
rs104893807	p.Ser449Cys	missense variant	-	NC_000003.12:g.30674196C>G	-
rs1480594626	p.Met450Ile	missense variant	-	NC_000003.12:g.30674200G>A	TOPMed
VAR_022359	p.Leu452Met	Missense	-	-	UniProt
NCI-TCGA novel	p.Glu456Ter	stop gained	-	NC_000003.12:g.30674216G>T	NCI-TCGA
NCI-TCGA novel	p.Glu456Gly	missense variant	-	NC_000003.12:g.30674217A>G	NCI-TCGA
rs1218684641	p.Met457Ile	missense variant	-	NC_000003.12:g.30674221G>T	gnomAD
VAR_066726	p.Met457Lys	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
NCI-TCGA novel	p.Ser459Pro	missense variant	-	NC_000003.12:g.30674225T>C	NCI-TCGA
RCV000013339	p.Arg460Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674228C>T	ClinVar
RCV000654788	p.Arg460Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674228C>T	ClinVar
RCV000252297	p.Arg460Cys	missense variant	-	NC_000003.12:g.30674228C>T	ClinVar
RCV000654802	p.Arg460Leu	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674229G>T	ClinVar
rs104893811	p.Arg460Cys	missense variant	-	NC_000003.12:g.30674228C>T	-
rs104893811	p.Arg460Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674228C>T	UniProt,dbSNP
VAR_029760	p.Arg460Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674228C>T	UniProt
rs104893816	p.Arg460Leu	missense variant	-	NC_000003.12:g.30674229G>T	gnomAD
rs104893816	p.Arg460His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674229G>A	UniProt,dbSNP
VAR_029761	p.Arg460His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674229G>A	UniProt
rs104893816	p.Arg460His	missense variant	-	NC_000003.12:g.30674229G>A	gnomAD
rs104893816	p.Arg460His	missense variant	-	NC_000003.12:g.30674229G>A	NCI-TCGA
RCV000013340	p.Arg460His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674229G>A	ClinVar
RCV000199227	p.Arg460Cys	missense variant	-	NC_000003.12:g.30674228C>T	ClinVar
RCV000196002	p.Arg460His	missense variant	-	NC_000003.12:g.30674229G>A	ClinVar
RCV000702388	p.Arg460His	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674229G>A	ClinVar
rs104893811	p.Arg460Cys	missense variant	-	NC_000003.12:g.30674228C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000143955	p.Cys461Tyr	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30674232G>A	ClinVar
RCV000499370	p.Cys461Arg	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674231T>C	ClinVar
NCI-TCGA novel	p.Cys461Ter	stop gained	-	NC_000003.12:g.30674233T>A	NCI-TCGA
NCI-TCGA novel	p.Cys461LeuPheSerTerUnk	frameshift	-	NC_000003.12:g.30674232G>-	NCI-TCGA
rs587782979	p.Cys461Tyr	missense variant	-	NC_000003.12:g.30674232G>A	-
rs1553630457	p.Cys461Arg	missense variant	-	NC_000003.12:g.30674231T>C	-
rs144766594	p.Gly465Ter	stop gained	-	NC_000003.12:g.30674243G>T	ESP,ExAC,gnomAD
rs1321865816	p.Glu466Val	missense variant	-	NC_000003.12:g.30688384A>T	TOPMed,gnomAD
COSM76715	p.Lys468Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688389A>C	NCI-TCGA Cosmic
rs1407331537	p.Asp469His	missense variant	-	NC_000003.12:g.30688392G>C	gnomAD
NCI-TCGA novel	p.Asp469Tyr	missense variant	-	NC_000003.12:g.30688392G>T	NCI-TCGA
rs772076729	p.Asp469Val	missense variant	-	NC_000003.12:g.30688393A>T	ExAC,gnomAD
rs772076729	p.Asp469Gly	missense variant	-	NC_000003.12:g.30688393A>G	ExAC,gnomAD
RCV000598649	p.Tyr470Ter	nonsense	-	NC_000003.12:g.30688397T>G	ClinVar
rs760797386	p.Tyr470Phe	missense variant	-	NC_000003.12:g.30688396A>T	ExAC,gnomAD
rs863224935	p.Tyr470Asp	missense variant	-	NC_000003.12:g.30688395T>G	-
RCV000253606	p.Tyr470Asp	missense variant	-	NC_000003.12:g.30688395T>G	ClinVar
rs1553631696	p.Tyr470Ter	stop gained	-	NC_000003.12:g.30688397T>G	-
NCI-TCGA novel	p.Glu471GlyPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30688399_30688409AGCCTCCATTT>-	NCI-TCGA
RCV000037733	p.Pro473Gln	missense variant	-	NC_000003.12:g.30688405C>A	ClinVar
rs397516839	p.Pro473Gln	missense variant	-	NC_000003.12:g.30688405C>A	-
rs397516839	p.Pro473Leu	missense variant	-	NC_000003.12:g.30688405C>T	-
RCV000197541	p.Pro473Leu	missense variant	-	NC_000003.12:g.30688405C>T	ClinVar
NCI-TCGA novel	p.Phe474Tyr	missense variant	-	NC_000003.12:g.30688408T>A	NCI-TCGA
rs769682815	p.Ser476Phe	missense variant	-	NC_000003.12:g.30688414C>T	ExAC,TOPMed,gnomAD
rs1182402824	p.Lys477Asn	missense variant	-	NC_000003.12:g.30688418G>C	TOPMed
rs1180382801	p.Val478Leu	missense variant	-	NC_000003.12:g.30688419G>C	gnomAD
rs1553631704	p.Arg479Gln	missense variant	-	NC_000003.12:g.30688423G>A	NCI-TCGA Cosmic
RCV000548667	p.Arg479Gln	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688423G>A	ClinVar
rs1444024775	p.Arg479Trp	missense variant	-	NC_000003.12:g.30688422C>T	NCI-TCGA Cosmic
rs1444024775	p.Arg479Trp	missense variant	-	NC_000003.12:g.30688422C>T	TOPMed
rs1553631704	p.Arg479Gln	missense variant	-	NC_000003.12:g.30688423G>A	-
COSM4752024	p.Glu480Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30688425G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu480Lys	missense variant	-	NC_000003.12:g.30688425G>A	NCI-TCGA
rs762756916	p.His481Tyr	missense variant	-	NC_000003.12:g.30688428C>T	ExAC,gnomAD
RCV000781900	p.His481Tyr	missense variant	-	NC_000003.12:g.30688428C>T	ClinVar
COSM4116813	p.Pro482Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688431C>A	NCI-TCGA Cosmic
RCV000770349	p.Val484Ter	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688433_30688434del	ClinVar
COSM446340	p.Glu485Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688440G>A	NCI-TCGA Cosmic
rs767120937	p.Met487Leu	missense variant	-	NC_000003.12:g.30688446A>C	ExAC,TOPMed,gnomAD
rs767120937	p.Met487Val	missense variant	-	NC_000003.12:g.30688446A>G	ExAC,TOPMed,gnomAD
rs752444160	p.Met487Ile	missense variant	-	NC_000003.12:g.30688448G>A	ExAC,gnomAD
VAR_041417	p.Asn490Ser	Missense	-	-	UniProt
rs754176932	p.Val491Met	missense variant	-	NC_000003.12:g.30688458G>A	NCI-TCGA
rs754176932	p.Val491Met	missense variant	-	NC_000003.12:g.30688458G>A	ExAC,TOPMed,gnomAD
rs754176932	p.Val491Leu	missense variant	-	NC_000003.12:g.30688458G>C	ExAC,TOPMed,gnomAD
RCV000590654	p.Val491Met	missense variant	-	NC_000003.12:g.30688458G>A	ClinVar
NCI-TCGA novel	p.Leu492Ser	missense variant	-	NC_000003.12:g.30688462T>C	NCI-TCGA
NCI-TCGA novel	p.Leu492Phe	missense variant	-	NC_000003.12:g.30688463G>C	NCI-TCGA
RCV000013344	p.Arg495Ter	nonsense	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30688470C>T	ClinVar
RCV000253575	p.Arg495Ter	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688470C>T	ClinVar
RCV000195964	p.Arg495Ter	nonsense	-	NC_000003.12:g.30688470C>T	ClinVar
RCV000157519	p.Arg495Ter	nonsense	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30688470C>T	ClinVar
rs1305853447	p.Arg495Gln	missense variant	-	NC_000003.12:g.30688471G>A	NCI-TCGA
rs104893819	p.Arg495Gly	missense variant	-	NC_000003.12:g.30688470C>G	TOPMed
rs1305853447	p.Arg495Gln	missense variant	-	NC_000003.12:g.30688471G>A	TOPMed,gnomAD
rs1305853447	p.Arg495Leu	missense variant	-	NC_000003.12:g.30688471G>T	TOPMed,gnomAD
rs104893819	p.Arg495Ter	stop gained	-	NC_000003.12:g.30688470C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000763512	p.Arg495Ter	nonsense	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30688470C>T	ClinVar
rs104893819	p.Arg495Ter	stop gained	-	NC_000003.12:g.30688470C>T	TOPMed
RCV000244033	p.Arg497Ter	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688476C>T	ClinVar
RCV000490801	p.Arg497Ter	nonsense	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30688476C>T	ClinVar
RCV000680613	p.Arg497Ter	nonsense	Connective tissue disorder	NC_000003.12:g.30688476C>T	ClinVar
NCI-TCGA novel	p.Arg497LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30688476_30688477insT	NCI-TCGA
rs200958264	p.Arg497Gln	missense variant	-	NC_000003.12:g.30688477G>A	1000Genomes,ExAC,gnomAD
rs863223852	p.Arg497Ter	stop gained	-	NC_000003.12:g.30688476C>T	gnomAD
rs863223852	p.Arg497Ter	stop gained	-	NC_000003.12:g.30688476C>T	NCI-TCGA Cosmic
RCV000552840	p.Pro498Ala	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688479C>G	ClinVar
rs1553631720	p.Pro498Ala	missense variant	-	NC_000003.12:g.30688479C>G	-
rs397516840	p.Glu499Ter	stop gained	-	NC_000003.12:g.30688482G>T	-
rs397516840	p.Glu499Ter	stop gained	-	NC_000003.12:g.30688482G>T	NCI-TCGA
RCV000037735	p.Glu499Ter	nonsense	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30688482G>T	ClinVar
COSM3592341	p.Pro501Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688488C>T	NCI-TCGA Cosmic
rs746373651	p.Pro501Leu	missense variant	-	NC_000003.12:g.30688489C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser502GlnPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30688487_30688488insC	NCI-TCGA
rs772201128	p.Phe503Leu	missense variant	-	NC_000003.12:g.30688494T>C	ExAC,gnomAD
rs780087626	p.Asn506Ser	missense variant	-	NC_000003.12:g.30688504A>G	ExAC,gnomAD
rs747068726	p.His507Tyr	missense variant	-	NC_000003.12:g.30688506C>T	ExAC,gnomAD
rs776851006	p.Gln508Ter	stop gained	-	NC_000003.12:g.30688509C>T	ExAC,gnomAD
RCV000801577	p.Gly509Val	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691421G>T	ClinVar
rs863223853	p.Gly509Val	missense variant	-	NC_000003.12:g.30691421G>T	-
RCV000227819	p.Ile510Ter	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691424del	ClinVar
rs1378593393	p.Ile510Thr	missense variant	-	NC_000003.12:g.30691424T>C	TOPMed
VAR_066729	p.Ile510Ser	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
VAR_066728	p.Ile510Phe	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
RCV000456592	p.Gln511Ter	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691426C>T	ClinVar
rs1060501984	p.Gln511Ter	stop gained	-	NC_000003.12:g.30691426C>T	-
rs1166402557	p.Met512Ile	missense variant	-	NC_000003.12:g.30691431G>T	gnomAD
rs1331629729	p.Val513Leu	missense variant	-	NC_000003.12:g.30691432G>C	TOPMed
RCV000030548	p.Cys514Arg	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691435T>C	ClinVar
rs193922664	p.Cys514Arg	missense variant	-	NC_000003.12:g.30691435T>C	-
RCV000660593	p.Thr516Ser	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691441A>T	ClinVar
RCV000469702	p.Thr516Met	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691442C>T	ClinVar
rs370708687	p.Thr516Ser	missense variant	-	NC_000003.12:g.30691441A>T	ESP,TOPMed
RCV000197820	p.Thr516Ser	missense variant	-	NC_000003.12:g.30691441A>T	ClinVar
rs149847376	p.Thr516Met	missense variant	-	NC_000003.12:g.30691442C>T	ESP,ExAC,TOPMed,gnomAD
RCV000774494	p.Leu517Met	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691444T>A	ClinVar
NCI-TCGA novel	p.Thr518Ser	missense variant	-	NC_000003.12:g.30691448C>G	NCI-TCGA
COSM129691	p.Glu519Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691450G>A	NCI-TCGA Cosmic
RCV000656212	p.Trp521Ter	nonsense	Wolff-Parkinson-White pattern	NC_000003.12:g.30691458G>A	ClinVar
rs1553631968	p.Trp521Ter	stop gained	-	NC_000003.12:g.30691458G>A	NCI-TCGA Cosmic
RCV000699504	p.Trp521Ter	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691458G>A	ClinVar
rs1553631968	p.Trp521Ter	stop gained	-	NC_000003.12:g.30691458G>A	-
VAR_066731	p.Trp521Arg	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
RCV000198083	p.Asp522Asn	missense variant	-	NC_000003.12:g.30691459G>A	ClinVar
RCV000473289	p.Asp522Ala	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691460A>C	ClinVar
rs886038768	p.Asp522Ala	missense variant	-	NC_000003.12:g.30691460A>C	-
rs863223854	p.Asp522Asn	missense variant	-	NC_000003.12:g.30691459G>A	-
rs886038768	p.Asp522Val	missense variant	-	NC_000003.12:g.30691460A>T	-
RCV000249863	p.Asp522Val	missense variant	-	NC_000003.12:g.30691460A>T	ClinVar
rs775441401	p.His523Asp	missense variant	-	NC_000003.12:g.30691462C>G	ExAC,gnomAD
NCI-TCGA novel	p.His523ArgPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.30691458_30691459insGACC	NCI-TCGA
rs775441401	p.His523Tyr	missense variant	-	NC_000003.12:g.30691462C>T	ExAC,gnomAD
RCV000154616	p.Asp524Tyr	missense variant	-	NC_000003.12:g.30691465G>T	ClinVar
COSM2983539	p.Asp524Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691466A>G	NCI-TCGA Cosmic
rs727504421	p.Asp524Tyr	missense variant	-	NC_000003.12:g.30691465G>T	-
rs727504421	p.Asp524Asn	missense variant	-	NC_000003.12:g.30691465G>A	-
rs727504421	p.Asp524Tyr	missense variant	-	NC_000003.12:g.30691465G>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000157520	p.Asp524Asn	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691465G>A	ClinVar
COSM3592343	p.Pro525Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691468C>T	NCI-TCGA Cosmic
RCV000688883	p.Glu526Gln	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691471G>C	ClinVar
COSM4889224	p.Glu526Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691471G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu526Val	missense variant	-	NC_000003.12:g.30691472A>T	NCI-TCGA
NCI-TCGA novel	p.Glu526Ter	stop gained	-	NC_000003.12:g.30691471G>T	NCI-TCGA
rs121918714	p.Glu526Gln	missense variant	-	NC_000003.12:g.30691471G>C	-
rs121918714	p.Glu526Gln	missense variant	-	NC_000003.12:g.30691471G>C	UniProt,dbSNP
VAR_015816	p.Glu526Gln	missense variant	-	NC_000003.12:g.30691471G>C	UniProt
RCV000588481	p.Ala527Val	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691475C>T	ClinVar
rs727503476	p.Ala527Val	missense variant	-	NC_000003.12:g.30691475C>T	-
RCV000197944	p.Arg528Cys	missense variant	-	NC_000003.12:g.30691477C>T	ClinVar
RCV000013335	p.Arg528His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691478G>A	ClinVar
RCV000691207	p.Arg528Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691477C>T	ClinVar
RCV000013337	p.Arg528Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691477C>T	ClinVar
rs104893810	p.Arg528Cys	missense variant	-	NC_000003.12:g.30691477C>T	-
rs104893810	p.Arg528Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691477C>T	UniProt,dbSNP
VAR_022360	p.Arg528Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691477C>T	UniProt
rs104893815	p.Arg528His	missense variant	-	NC_000003.12:g.30691478G>A	-
rs104893815	p.Arg528His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691478G>A	UniProt,dbSNP
VAR_022361	p.Arg528His	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691478G>A	UniProt
RCV000013336	p.Arg528His	missense variant	Hereditary nonpolyposis colorectal cancer type 6 (HNPCC6)	NC_000003.12:g.30691478G>A	ClinVar
RCV000825631	p.Arg528Cys	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691477C>T	ClinVar
RCV000654809	p.Arg528His	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691478G>A	ClinVar
RCV000200178	p.Arg528His	missense variant	-	NC_000003.12:g.30691478G>A	ClinVar
RCV000211858	p.Arg528His	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691478G>A	ClinVar
rs104893810	p.Arg528Cys	missense variant	-	NC_000003.12:g.30691477C>T	NCI-TCGA,NCI-TCGA Cosmic
rs104893815	p.Arg528His	missense variant	-	NC_000003.12:g.30691478G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM2152000	p.Leu529Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691480C>T	NCI-TCGA Cosmic
COSM4820429	p.Thr530Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691484C>T	NCI-TCGA Cosmic
VAR_076171	p.Thr530Ile	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
rs727503477	p.Ala531Thr	missense variant	-	NC_000003.12:g.30691486G>A	-
RCV000152013	p.Ala531Thr	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691486G>A	ClinVar
rs1196415682	p.Gln532Arg	missense variant	-	NC_000003.12:g.30691490A>G	gnomAD
rs1196415682	p.Gln532Pro	missense variant	-	NC_000003.12:g.30691490A>C	gnomAD
rs1275235989	p.Val534Met	missense variant	-	NC_000003.12:g.30691495G>A	gnomAD
RCV000013324	p.Ala535Ter	frameshift	Hereditary nonpolyposis colorectal cancer type 6 (HNPCC6)	NC_000003.12:g.30691492_30691493TG[4]	ClinVar
RCV000196289	p.Arg537Cys	missense variant	-	NC_000003.12:g.30691504C>T	ClinVar
RCV000529794	p.Arg537Cys	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691504C>T	ClinVar
RCV000429672	p.Arg537His	missense variant	-	NC_000003.12:g.30691505G>A	ClinVar
rs104893809	p.Arg537Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691504C>T	UniProt,dbSNP
VAR_022362	p.Arg537Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691504C>T	UniProt
rs104893809	p.Arg537Cys	missense variant	-	NC_000003.12:g.30691504C>T	-
rs1057524810	p.Arg537His	missense variant	-	NC_000003.12:g.30691505G>A	gnomAD
rs104893809	p.Arg537Cys	missense variant	-	NC_000003.12:g.30691504C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1057524810	p.Arg537His	missense variant	-	NC_000003.12:g.30691505G>A	NCI-TCGA Cosmic
RCV000013331	p.Arg537Cys	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691504C>T	ClinVar
rs1035228561	p.Ser539Ile	missense variant	-	NC_000003.12:g.30691511G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu540Ter	stop gained	-	NC_000003.12:g.30691513G>T	NCI-TCGA
rs375226321	p.Glu542Asp	missense variant	-	NC_000003.12:g.30691521G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu544Met	missense variant	-	NC_000003.12:g.30691525C>A	NCI-TCGA
rs1178327690	p.Asp545Glu	missense variant	-	NC_000003.12:g.30691530C>G	TOPMed
rs752099306	p.Leu547Phe	missense variant	-	NC_000003.12:g.30691534C>T	ExAC,gnomAD
rs755070814	p.Ser548Leu	missense variant	-	NC_000003.12:g.30691538C>T	ExAC,TOPMed,gnomAD
RCV000464975	p.Ser548Leu	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691538C>T	ClinVar
rs748418894	p.Gly549Trp	missense variant	-	NC_000003.12:g.30691540G>T	ExAC,TOPMed
RCV000590443	p.Gly549Trp	missense variant	-	NC_000003.12:g.30691540G>T	ClinVar
RCV000152014	p.Ser553Thr	missense variant	-	NC_000003.12:g.30691552T>A	ClinVar
rs569635708	p.Ser553Leu	missense variant	-	NC_000003.12:g.30691553C>T	1000Genomes,ExAC,TOPMed
rs112215250	p.Ser553Thr	missense variant	-	NC_000003.12:g.30691552T>A	ESP,ExAC,TOPMed,gnomAD
rs1325892805	p.Glu555Lys	missense variant	-	NC_000003.12:g.30691558G>A	gnomAD
RCV000154536	p.Asp560Glu	missense variant	-	NC_000003.12:g.30691575C>G	ClinVar
rs376815143	p.Asp560Glu	missense variant	-	NC_000003.12:g.30691575C>G	ESP,ExAC,TOPMed,gnomAD
RCV000768335	p.Gly561Ala	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691577G>C	ClinVar
rs768103695	p.Gly561Ser	missense variant	-	NC_000003.12:g.30691576G>A	NCI-TCGA
NCI-TCGA novel	p.Gly561Asp	missense variant	-	NC_000003.12:g.30691577G>A	NCI-TCGA
rs768103695	p.Gly561Ser	missense variant	-	NC_000003.12:g.30691576G>A	ExAC,TOPMed,gnomAD
COSM2983548	p.Ser562Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691580C>T	NCI-TCGA Cosmic
rs761275220	p.Thr566Ala	missense variant	-	NC_000003.12:g.30691591A>G	ExAC,gnomAD
rs772782677	p.Lys567Thr	missense variant	-	NC_000003.12:g.30691595A>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000737	Abdominal Pain	phenotype	HPO
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001430	Adenoma	group	BEFREE
C0001815	Primary Myelofibrosis	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002940	Aneurysm	phenotype	BEFREE
C0002949	Aneurysm, Dissecting	disease	BEFREE;CTD_human;HPO
C0002991	Cutaneous Fibrous Histiocytoma	disease	BEFREE
C0003130	Anoxia	phenotype	LHGDN
C0003467	Anxiety	disease	HPO
C0003486	Aortic Aneurysm	disease	BEFREE;CTD_human;HPO;LHGDN
C0003504	Aortic Valve Insufficiency	disease	BEFREE;HPO
C0003706	Arachnodactyly	disease	HPO
C0003886	Arthrogryposis	disease	BEFREE;GENOMICS_ENGLAND
C0004096	Asthma	disease	BEFREE
C0004623	Bacterial Infections	group	BEFREE
C0005823	Blood Pressure	phenotype	GWASCAT
C0005940	Bone Diseases	group	CTD_human
C0005967	Bone neoplasms	group	CTD_human
C0006079	Bowen's Disease	disease	BEFREE
C0006118	Brain Neoplasms	group	CTD_human
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	BEFREE
C0007097	Carcinoma	group	CTD_human
C0007102	Malignant tumor of colon	disease	BEFREE;CTD_human;HPO
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007117	Basal cell carcinoma	disease	LHGDN
C0007120	Bronchioloalveolar Adenocarcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE;LHGDN
C0007137	Squamous cell carcinoma	disease	BEFREE;HPO;LHGDN
C0007222	Cardiovascular Diseases	group	BEFREE
C0007766	Intracranial Aneurysm	disease	BEFREE
C0007785	Cerebral Infarction	disease	BEFREE
C0007820	Cerebrovascular Disorders	group	GENOMICS_ENGLAND
C0007852	Cervical Migraine Syndrome	disease	CTD_human
C0008031	Chest Pain	phenotype	HPO
C0008311	Cholangitis	disease	BEFREE
C0008312	Primary biliary cirrhosis	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009081	Congenital clubfoot	disease	HPO
C0009319	Colitis	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009375	Colonic Neoplasms	group	CTD_human;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE;LHGDN
C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	group	CTD_human;LHGDN
C0009782	Connective Tissue Diseases	group	BEFREE
C0009806	Constipation	phenotype	HPO
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0010200	Coughing	phenotype	HPO
C0010278	Craniosynostosis	disease	GENOMICS_ENGLAND;HPO
C0010346	Crohn Disease	disease	BEFREE
C0011195	Dejerine-Sottas Disease (disorder)	disease	BEFREE
C0011581	Depressive disorder	disease	HPO
C0011644	Scleroderma	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	RGD
C0011881	Diabetic Nephropathy	disease	BEFREE;CTD_human;LHGDN
C0011989	Camurati-Engelmann Syndrome	disease	BEFREE
C0012236	DiGeorge Syndrome	disease	MGD
C0013238	Dry Eye Syndromes	group	BEFREE
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0013274	Patent ductus arteriosus	disease	BEFREE;HPO
C0013405	Dyspnea, Paroxysmal	disease	HPO
C0013720	Ehlers-Danlos Syndrome	disease	BEFREE;GENOMICS_ENGLAND
C0013743	Eisenmenger Complex	disease	LHGDN
C0014544	Epilepsy	disease	HPO
C0014859	Esophageal Neoplasms	group	CGI;CTD_human
C0015300	Exophthalmos	disease	HPO
C0015310	Exotropia	disease	HPO
C0015393	Eye Abnormalities	group	CTD_human
C0015672	Fatigue	phenotype	CTD_human;HPO
C0016059	Fibrosis	phenotype	LHGDN
C0016202	Flatfoot	phenotype	HPO
C0016658	Fracture	group	CTD_human
C0016977	Gall Bladder Diseases	group	BEFREE
C0017178	Gastrointestinal Diseases	group	BEFREE
C0017181	Gastrointestinal Hemorrhage	phenotype	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0017662	Glomerulonephritis, Membranoproliferative	disease	RGD
C0017667	Nodular glomerulosclerosis	disease	CTD_human
C0017668	Focal glomerulosclerosis	disease	BEFREE
C0018790	Cardiac Arrest	disease	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE
C0018800	Cardiomegaly	phenotype	HPO
C0018984	Hemicrania migraine	disease	CTD_human
C0019294	Hernia, Inguinal	phenotype	CTD_human
C0019295	Inguinal Hernia, Direct	disease	CTD_human
C0019296	Inguinal Hernia, Indirect	disease	CTD_human
C0020534	Orbital separation excessive	phenotype	HPO
C0020538	Hypertensive disease	group	BEFREE;HPO;LHGDN
C0020542	Pulmonary Hypertension	phenotype	RGD
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0021841	Intestinal Neoplasms	group	BEFREE
C0022658	Kidney Diseases	group	RGD
C0023212	Left-Sided Heart Failure	disease	HPO
C0023343	Leprosy	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023892	Biliary cirrhosis	disease	LHGDN
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024121	Lung Neoplasms	group	CTD_human
C0024299	Lymphoma	group	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024796	Marfan Syndrome	disease	BEFREE;CLINGEN;CTD_human;LHGDN
C0024814	Marinesco-Sjogren syndrome	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026691	Mucocutaneous Lymph Node Syndrome	disease	BEFREE
C0026826	Muscle Hypertonia	phenotype	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0027051	Myocardial Infarction	disease	RGD
C0027498	Nausea and vomiting	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE;CTD_human;LHGDN
C0027697	Nephritis	disease	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE;LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	BEFREE
C0032463	Polycythemia Vera	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE;CTD_human;LHGDN;MGD
C0034069	Pulmonary Fibrosis	disease	BEFREE;RGD
C0034885	Rectal Neoplasms	group	HPO
C0035335	Retinoblastoma	disease	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0036421	Systemic Scleroderma	disease	BEFREE;LHGDN
C0036572	Seizures	phenotype	HPO
C0037932	Curvature of spine	phenotype	HPO
C0038356	Stomach Neoplasms	group	LHGDN
C0040136	Thyroid Neoplasm	disease	BEFREE
C0041296	Tuberculosis	disease	LHGDN
C0041582	Ulcer	disease	BEFREE
C0042143	Uterine Rupture	phenotype	HPO
C0042331	Migraine Variant	disease	CTD_human
C0042373	Vascular Diseases	group	BEFREE;LHGDN
C0079731	B-Cell Lymphomas	group	LHGDN
C0085077	Sweet Syndrome	disease	BEFREE
C0085119	Foot Ulcer	disease	LHGDN
C0085580	Essential Hypertension	disease	BEFREE
C0085612	Ventricular arrhythmia	disease	BEFREE
C0086437	Joint laxity	phenotype	HPO
C0086525	Lassitude	phenotype	CTD_human
C0086981	Sicca Syndrome	disease	BEFREE
C0149630	Bicuspid aortic valve	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE;CTD_human;HPO
C0151491	Congenital musculoskeletal anomalies	group	LHGDN
C0151546	Oral Cavity Carcinoma	disease	BEFREE
C0151740	Intracranial Hypertension	disease	HPO
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE;CGI;HPO;UNIPROT
C0152171	Idiopathic pulmonary hypertension	disease	BEFREE
C0152459	Linear atrophy	phenotype	HPO
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0153452	Malignant neoplasm of gallbladder	disease	BEFREE
C0153633	Malignant neoplasm of brain	disease	CTD_human
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0153687	Secondary malignant neoplasm of skin	disease	BEFREE
C0153942	Benign neoplasm of esophagus	disease	CGI
C0154059	Carcinoma in situ of esophagus	disease	CGI
C0154723	Migraine with Aura	disease	BEFREE
C0155676	Pulmonary artery aneurysm	phenotype	HPO
C0158113	Contracture of joint of hand	phenotype	HPO
C0158646	Cleft palate with cleft lip	disease	HPO
C0162810	Cicatrix, Hypertrophic	phenotype	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE
C0162872	Aortic Aneurysm, Thoracic	disease	BEFREE;CTD_human;GENOMICS_ENGLAND
C0175778	Larsen syndrome	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0202236	Triglycerides measurement	phenotype	GWASDB
C0205696	Anaplastic carcinoma	disease	CTD_human
C0205697	Carcinoma, Spindle-Cell	disease	CTD_human
C0205698	Undifferentiated carcinoma	phenotype	CTD_human
C0205699	Carcinomatosis	phenotype	CTD_human
C0206172	Diabetic Foot	disease	LHGDN
C0206623	Adenosquamous carcinoma	disease	BEFREE
C0206686	Adrenocortical carcinoma	disease	LHGDN
C0206698	Cholangiocarcinoma	disease	BEFREE;RGD
C0206703	Carcinoma, Giant Cell	disease	BEFREE;LHGDN
C0206704	Carcinoma, Large Cell	disease	LHGDN
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220668	Congenital contractural arachnodactyly	disease	BEFREE
C0221357	Brachydactyly	disease	HPO
C0231807	Dyspnea on exertion	phenotype	HPO
C0232487	Abdominal discomfort	phenotype	HPO
C0235782	Gallbladder Carcinoma	disease	BEFREE
C0235942	Abnormality of the skull	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0237326	Dyschezia	phenotype	HPO
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0238669	Aortic root dilatation	disease	HPO
C0239946	Fibrosis, Liver	disease	BEFREE
C0240635	Byzanthine arch palate	disease	HPO
C0241240	Tall stature	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE;CTD_human
C0262584	Carcinoma, Small Cell	disease	BEFREE
C0263401	Cutis marmorata	disease	HPO
C0264133	Acquired flat foot	phenotype	HPO
C0266122	Cleft uvula	disease	BEFREE;HPO
C0270858	Abdominal Migraine	disease	CTD_human
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0278701	Gastric Adenocarcinoma	disease	UNIPROT
C0279530	Malignant Bone Neoplasm	disease	CTD_human
C0279607	Adult Hepatocellular Carcinoma	disease	RGD
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE;ORPHANET
C0280725	Adult Cholangiocarcinoma	disease	RGD
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0314719	Dryness of eye	phenotype	BEFREE
C0332712	Fracture, spiral	disease	CTD_human
C0334347	Eccrine spiradenoma	disease	BEFREE
C0338489	Status Migrainosus	disease	CTD_human
C0340630	Aortic Aneurysm, Thoracoabdominal	disease	CTD_human
C0340643	Dissection of aorta	disease	BEFREE;CTD_human;HPO
C0345050	Congenital aneurysm of ascending aorta	disease	BEFREE;GENOMICS_ENGLAND
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0345996	Milium Cyst	phenotype	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human;MGD
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392775	Cystic medial necrosis of aorta	disease	HPO
C0392784	Dermatofibrosarcoma Protuberans	disease	BEFREE
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0431109	Choroid Plexus Carcinoma	disease	BEFREE
C0432098	Cleft Soft Palate	disease	MGD
C0476089	Endometrial Carcinoma	disease	BEFREE
C0496899	Benign neoplasm of brain, unspecified	disease	CTD_human
C0497247	Increase in blood pressure	phenotype	HPO
C0521664	Acute Confusional Migraine	disease	CTD_human
C0524812	Intracranial Hypotension	disease	BEFREE
C0542514	Blue sclera	phenotype	HPO
C0546837	Malignant neoplasm of esophagus	disease	CGI;CLINVAR;CTD_human
C0553580	Ewings sarcoma	disease	BEFREE
C0553982	Impaired left ventricular function	phenotype	HPO
C0578575	Dissection of proximal aorta	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;GWASCAT;GWASDB
C0684249	Carcinoma of lung	disease	BEFREE
C0685409	Congenital Camptodactyly	disease	HPO
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0687713	Gastrointestinal pain	phenotype	HPO
C0699790	Colon Carcinoma	disease	BEFREE;CGI
C0699791	Stomach Carcinoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0700438	Sick Headaches	disease	CTD_human
C0744641	Intermittent migraine headaches	disease	HPO
C0750952	Biliary Tract Cancer	disease	BEFREE
C0750974	Brain Tumor, Primary	disease	CTD_human
C0750977	Recurrent Brain Neoplasm	disease	CTD_human
C0750979	Primary malignant neoplasm of brain	disease	CTD_human
C0751688	Malignant Squamous Cell Neoplasm	disease	HPO
C0850572	Adenomatous polyp of colon	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0858252	Breast adenocarcinoma	disease	BEFREE
C0917798	Cerebral Ischemia	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C0920269	Microsatellite Instability	phenotype	CTD_human
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C1112155	Hereditary non-polyposis colorectal cancer syndrome	disease	ORPHANET
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1262477	Weight decreased	phenotype	HPO
C1263846	Attention deficit hyperactivity disorder	disease	HPO
C1271104	Blood pressure finding	phenotype	GWASCAT
C1272641	Systemic arterial pressure	phenotype	GWASCAT
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1290398	Cerebral arterial aneurysm	disease	BEFREE
C1292753	Primary Effusion Lymphoma	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1321551	Shprintzen-Goldberg syndrome	disease	BEFREE
C1332271	Perianal Squamous Intraepithelial Neoplasia	disease	BEFREE
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE;CTD_human;ORPHANET
C1334274	Invasive Carcinoma	phenotype	BEFREE
C1334815	Multi-centric Castleman's Disease	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1336076	Sporadic Breast Carcinoma	disease	BEFREE
C1366911	Cerebral Cavernous Malformations 1	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN;UNIPROT
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE;UNIPROT
C1527390	Neoplasms, Intracranial	group	CTD_human
C1565489	Renal Insufficiency	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	HPO
C1721098	Replication Error Phenotype	phenotype	CTD_human
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1836635	Loeys-Dietz Aortic Aneurysm Syndrome	disease	BEFREE;CTD_human;MGD;ORPHANET
C1836646	Dermal translucency	phenotype	HPO
C1836651	Generalized arterial tortuosity	phenotype	HPO
C1836653	Ascending aortic dissection	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1837760	Prominent eyes	phenotype	HPO
C1844947	Death in early childhood	phenotype	HPO
C1848296	DOSAGE-SENSITIVE SEX REVERSAL	disease	BEFREE
C1848490	Protruding eyes	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1858430	Death in infancy	phenotype	HPO
C1860493	Abnormality of the sternum	phenotype	HPO
C1860896	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	disease	CLINVAR;CTD_human;UNIPROT
C1862425	Prominent globes	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE;HPO
C2004489	Regurgitation	phenotype	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2607914	Allergic rhinitis (disorder)	disease	BEFREE
C2674574	Aortic aneurysm, familial thoracic 3	disease	CTD_human;UNIPROT
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2674876	LOEYS-DIETZ SYNDROME, TYPE 1B	disease	CLINVAR
C2697932	Loeys-Dietz Syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET
C2697933	Loeys-Dietz Syndrome Type 1	disease	CLINVAR
C2700617	Irritation - emotion	phenotype	HPO
C2751126	AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO	phenotype	UNIPROT
C2931058	Marfan Syndrome type 2	disease	BEFREE;ORPHANET
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3149254	ESCC, SUSCEPTIBILITY TO	phenotype	UNIPROT
C3149255	GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO	phenotype	UNIPROT
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3275124	Biliary System Disorder	disease	BEFREE
C3279191	Arterial tortuosity	phenotype	HPO
C3281200	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3494422	Retrognathia	phenotype	HPO
C3539909	Allergic disposition	phenotype	BEFREE
C3542024	AORTIC VALVE DISEASE 2	disease	BEFREE
C3693482	Giant Cell Fibroblastoma	disease	BEFREE
C3714745	Malabsorption	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3887461	Head and Neck Carcinoma	disease	BEFREE
C3898580	Loeys-Dietz Syndrome Type 2	disease	BEFREE
C4020884	Anxiety disease	disease	HPO
C4021776	Abnormality of the voice	phenotype	HPO
C4021786	Atypical scarring of skin	phenotype	HPO
C4021813	Oral cleft	disease	HPO
C4022012	Death in early adulthood	phenotype	HPO
C4022878	Descending aortic dissection	disease	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024989	Hereditary nonpolyposis colorectal carcinoma	disease	HPO
C4025741	Clinodactyly of the 5th toe	phenotype	HPO
C4025845	Abnormality of the iris	phenotype	HPO
C4277533	Dissection, Blood Vessel	phenotype	CTD_human
C4280586	Curvature of the little toe	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IDA
GO:0005024	transforming growth factor beta-activated receptor activity	IC
GO:0005024	transforming growth factor beta-activated receptor activity	IMP
GO:0005024	transforming growth factor beta-activated receptor activity	IDA
GO:0005024	transforming growth factor beta-activated receptor activity	IBA
GO:0005026	transforming growth factor beta receptor activity, type II	IEA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0005539	glycosaminoglycan binding	IDA
GO:0017002	activin-activated receptor activity	IBA
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IEA
GO:0034713	type I transforming growth factor beta receptor binding	IPI
GO:0034713	type I transforming growth factor beta receptor binding	IBA
GO:0046332	SMAD binding	IDA
GO:0046332	SMAD binding	IBA
GO:0046872	metal ion binding	IEA
GO:0048185	activin binding	IBA
GO:0050431	transforming growth factor beta binding	IPI
GO:0050431	transforming growth factor beta binding	IDA
GO:0050431	transforming growth factor beta binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001568	blood vessel development	TAS
GO:0001569	branching involved in blood vessel morphogenesis	ISS
GO:0001570	vasculogenesis	ISS
GO:0001666	response to hypoxia	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001947	heart looping	ISS
GO:0002053	positive regulation of mesenchymal cell proliferation	ISS
GO:0002088	lens development in camera-type eye	IEA
GO:0002651	positive regulation of tolerance induction to self antigen	ISS
GO:0002663	positive regulation of B cell tolerance induction	ISS
GO:0002666	positive regulation of T cell tolerance induction	ISS
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0003149	membranous septum morphogenesis	ISS
GO:0003151	outflow tract morphogenesis	ISS
GO:0003181	atrioventricular valve morphogenesis	ISS
GO:0003186	tricuspid valve morphogenesis	ISS
GO:0003214	cardiac left ventricle morphogenesis	ISS
GO:0003274	endocardial cushion fusion	ISS
GO:0003430	growth plate cartilage chondrocyte growth	IEA
GO:0006468	protein phosphorylation	IDA
GO:0006468	protein phosphorylation	IBA
GO:0006898	receptor-mediated endocytosis	IEA
GO:0006915	apoptotic process	IDA
GO:0007179	transforming growth factor beta receptor signaling pathway	IC
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS
GO:0007182	common-partner SMAD protein phosphorylation	IEA
GO:0007219	Notch signaling pathway	IEA
GO:0007224	smoothened signaling pathway	IEA
GO:0007369	gastrulation	IEA
GO:0007420	brain development	ISS
GO:0007507	heart development	ISS
GO:0007507	heart development	IBA
GO:0007566	embryo implantation	IEA
GO:0007568	aging	IEA
GO:0007584	response to nutrient	IEA
GO:0008284	positive regulation of cell population proliferation	TAS
GO:0009612	response to mechanical stimulus	IEA
GO:0009749	response to glucose	IEA
GO:0010468	regulation of gene expression	IEA
GO:0010634	positive regulation of epithelial cell migration	IEA
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA
GO:0018105	peptidyl-serine phosphorylation	IDA
GO:0018107	peptidyl-threonine phosphorylation	IDA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS
GO:0031100	animal organ regeneration	IEA
GO:0032147	activation of protein kinase activity	ISS
GO:0032924	activin receptor signaling pathway	IEA
GO:0035162	embryonic hemopoiesis	ISS
GO:0042060	wound healing	IEA
GO:0042127	regulation of cell population proliferation	ISS
GO:0042493	response to drug	IDA
GO:0043011	myeloid dendritic cell differentiation	ISS
GO:0043415	positive regulation of skeletal muscle tissue regeneration	IEA
GO:0043627	response to estrogen	IEA
GO:0045766	positive regulation of angiogenesis	IEA
GO:0048545	response to steroid hormone	IEA
GO:0048565	digestive tract development	IEA
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	ISS
GO:0051138	positive regulation of NK T cell differentiation	ISS
GO:0060044	negative regulation of cardiac muscle cell proliferation	IEA
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA
GO:0060412	ventricular septum morphogenesis	ISS
GO:0060434	bronchus morphogenesis	IEA
GO:0060440	trachea formation	IEA
GO:0060443	mammary gland morphogenesis	IEA
GO:0060463	lung lobe morphogenesis	IEA
GO:0062009	secondary palate development	ISS
GO:0070723	response to cholesterol	IDA
GO:0071363	cellular response to growth factor stimulus	IBA
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905317	inferior endocardial cushion morphogenesis	ISS
GO:1990086	lens fiber cell apoptotic process	IEA
GO:1990428	miRNA transport	ISS
GO:2000379	positive regulation of reactive oxygen species metabolic process	IMP
GO:2000563	positive regulation of CD4-positive, alpha-beta T cell proliferation	IDA
GO:1905315	cell proliferation involved in endocardial cushion morphogenesis	ISS
GO:1905316	superior endocardial cushion morphogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IEA
GO:0005901	caveola	IDA
GO:0009897	external side of plasma membrane	IDA
GO:0016021	integral component of membrane	IDA
GO:0043235	receptor complex	IBA
GO:0043235	receptor complex	IDA
GO:0045121	membrane raft	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-1643685	Disease	TAS
R-HSA-170834	Signaling by TGF-beta Receptor Complex	TAS
R-HSA-170834	Signaling by TGF-beta Receptor Complex	IEA
R-HSA-2173788	Downregulation of TGF-beta receptor signaling	TAS
R-HSA-2173788	Downregulation of TGF-beta receptor signaling	IEA
R-HSA-2173789	TGF-beta receptor signaling activates SMADs	TAS
R-HSA-2173789	TGF-beta receptor signaling activates SMADs	IEA
R-HSA-2173791	TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	TAS
R-HSA-2173791	TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	IEA
R-HSA-3304349	Loss of Function of SMAD2/3 in Cancer	TAS
R-HSA-3304351	Signaling by TGF-beta Receptor Complex in Cancer	TAS
R-HSA-3304356	SMAD2/3 Phosphorylation Motif Mutants in Cancer	TAS
R-HSA-3642278	Loss of Function of TGFBR2 in Cancer	TAS
R-HSA-3642279	TGFBR2 MSI Frameshift Mutants in Cancer	TAS
R-HSA-3645790	TGFBR2 Kinase Domain Mutants in Cancer	TAS
R-HSA-3656532	TGFBR1 KD Mutants in Cancer	TAS
R-HSA-3656534	Loss of Function of TGFBR1 in Cancer	TAS
R-HSA-3656535	TGFBR1 LBD Mutants in Cancer	TAS
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5688426	Deubiquitination	IEA
R-HSA-5689603	UCH proteinases	IEA
R-HSA-597592	Post-translational protein modification	IEA
R-HSA-9006936	Signaling by TGF-beta family members	TAS
R-HSA-9006936	Signaling by TGF-beta family members	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of TGFBR2 mRNA	22698814; 28903501;
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of TGFBR2 mRNA	28628672
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of TGFBR2 mRNA]	21851831
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in increased expression of TGFBR2 mRNA	21851831
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	Tetrachlorodibenzodioxin promotes the reaction [2,4,5,2',4',5'-hexachlorobiphenyl results in increased expression of TGFBR2 mRNA]	21851831
C525921	2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine	TGFBR2 protein inhibits the reaction [2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine results in decreased expression of IGFBP3 mRNA]	29108245
C525921	2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine	TGFBR2 protein inhibits the reaction [2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine results in decreased expression of IGFBP3 protein]	29108245
C029216	2-amino-3-methylimidazo(4,5-f)quinoline	2-amino-3-methylimidazo(4,5-f)quinoline results in increased expression of TGFBR2 protein	22094457
C029955	2-nitrotoluene	2-nitrotoluene results in increased expression of TGFBR2 mRNA	16460773
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of TGFBR2 mRNA	18648102
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of TGFBR2 mRNA	27567155
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [Sodium Fluoride results in increased expression of TGFBR2 mRNA]	29127033
C012606	4-vinyl-1-cyclohexene dioxide	4-vinyl-1-cyclohexene dioxide affects the expression of TGFBR2 mRNA	20829426
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of TGFBR2 mRNA	19150397
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of TGFBR2 mRNA	22079614
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 mRNA	22485181
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 protein	22485181
D015127	9,10-Dimethyl-1,2-benzanthracene	chlorophyllin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 mRNA]	22485181
D015127	9,10-Dimethyl-1,2-benzanthracene	chlorophyllin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 protein]	22485181
D015127	9,10-Dimethyl-1,2-benzanthracene	Ellagic Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 mRNA]	22485181
D015127	9,10-Dimethyl-1,2-benzanthracene	Ellagic Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 protein]	22485181
D000079	Acetaldehyde	Acetaldehyde results in increased expression of TGFBR2 mRNA	12223100
D000079	Acetaldehyde	JUN protein promotes the reaction [Acetaldehyde results in increased expression of TGFBR2 mRNA]	12223100
D000079	Acetaldehyde	KLF9 protein promotes the reaction [Acetaldehyde results in increased expression of TGFBR2 mRNA]	12223100
D000079	Acetaldehyde	TGFBR2 protein promotes the reaction [Acetaldehyde results in increased expression of COL1A1 mRNA]	12223100
D000082	Acetaminophen	Acetaminophen affects the expression of TGFBR2 mRNA	17562736
D000111	Acetylcysteine	Acetylcysteine results in decreased expression of TGFBR2 mRNA	17602960
D000111	Acetylcysteine	Acetylcysteine results in decreased expression of TGFBR2 protein	17602960
D000111	Acetylcysteine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine results in decreased expression of TGFBR2 mRNA]	17602960
D000111	Acetylcysteine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine results in decreased expression of TGFBR2 protein]	17602960
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of TGFBR2 mRNA	28943387
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of TGFBR2 intron	30157460
D000077410	Aluminum Chloride	Aluminum Chloride results in decreased expression of TGFBR2 mRNA	26658030; 27720690;
D000077410	Aluminum Chloride	TGFB1 protein inhibits the reaction [Aluminum Chloride results in decreased expression of TGFBR2 mRNA]	27720690
D000537	Aluminum Oxide	Aluminum Oxide results in increased expression of TGFBR2 mRNA	19464052
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of TGFBR2 mRNA	16483693
D000942	Antigens, Bacterial	[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of TGFBR2 mRNA	29067999
D000942	Antigens, Bacterial	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of TGFBR2 mRNA]	29067999
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of TGFBR2 mRNA	25339124
D001151	Arsenic	Arsenic affects the expression of TGFBR2 protein	24675094
D001151	Arsenic	Arsenic affects the methylation of TGFBR2 gene	25304211
C058317	arsenic disulfide	arsenic disulfide results in decreased expression of TGFBR2 mRNA	12890387
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of TGFBR2 mRNA	12852829; 22521957;
D001194	Asbestos	[Asbestos, Serpentine results in decreased susceptibility to Asbestos] which results in decreased expression of TGFBR2 mRNA	25358858
D017632	Asbestos, Serpentine	[Asbestos, Serpentine results in decreased susceptibility to Asbestos] which results in decreased expression of TGFBR2 mRNA	25358858
C049935	avobenzone	avobenzone results in increased expression of TGFBR2 mRNA	31016361
C547126	AZM551248	AZM551248 results in increased expression of TGFBR2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TGFBR2 mRNA	20106945; 21632981;
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of TGFBR2 mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of TGFBR2 intron	30157460
D001688	Biological Products	Biological Products results in decreased expression of TGFBR2 protein	23624380
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of TGFBR2 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TGFBR2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of TGFBR2 mRNA	21786754
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of TGFBR2 mRNA	28628672
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of TGFBR2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of TGFBR2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of TGFBR2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of TGFBR2 gene	28505145
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of TGFBR2 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of TGFBR2 mRNA	30951980
D001761	Bleomycin	[CCL12 protein co-treated with Dinoprostone] affects the reaction [Bleomycin results in increased expression of TGFBR2 mRNA]	28434932
D001761	Bleomycin	[HIF1A protein co-treated with Dinoprostone] affects the reaction [Bleomycin results in increased expression of TGFBR2 mRNA]	28434932
D001761	Bleomycin	[MMP3 protein co-treated with Dinoprostone] affects the reaction [Bleomycin results in increased expression of TGFBR2 mRNA]	28434932
C099813	bromochloroacetic acid	bromochloroacetic acid results in increased expression of TGFBR2 mRNA	16460773
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine results in decreased expression of TGFBR2 mRNA]	17602960
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [Acetylcysteine results in decreased expression of TGFBR2 protein]	17602960
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [Curcumin results in decreased expression of TGFBR2 mRNA]	17602960
D019328	Buthionine Sulfoximine	Buthionine Sulfoximine inhibits the reaction [Curcumin results in decreased expression of TGFBR2 protein]	17602960
C584509	C646 compound	C646 compound results in decreased expression of TGFBR2 mRNA	26921506
D002101	Cacodylic Acid	Cacodylic Acid results in increased expression of TGFBR2 mRNA	17481689
D002104	Cadmium	Cadmium results in increased expression of TGFBR2 mRNA	22562489
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of TGFBR2 mRNA	26472689
D002117	Calcitriol	Calcitriol results in increased expression of TGFBR2 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of TGFBR2 mRNA	21592394
C077793	candesartan cilexetil	candesartan cilexetil inhibits the reaction [sodium arsenite results in increased expression of TGFBR2 protein]	27889505
D002185	Cannabidiol	Cannabidiol affects the methylation of TGFBR2 gene	30521419
D002220	Carbamazepine	Carbamazepine affects the expression of TGFBR2 mRNA	25979313
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Diethylnitrosamine] results in increased expression of TGFBR2 mRNA	26778414
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of TGFBR2 mRNA	25827057
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of TGFBR2 mRNA	15818738; 16872305; 17163593;
D002251	Carbon Tetrachloride	Drugs, Chinese Herbal inhibits the reaction [Carbon Tetrachloride results in increased expression of TGFBR2 mRNA]	15818738; 17163593;
D002251	Carbon Tetrachloride	Perindopril inhibits the reaction [Carbon Tetrachloride results in increased expression of TGFBR2 mRNA]	16872305
D002251	Carbon Tetrachloride	Valsartan inhibits the reaction [Carbon Tetrachloride results in increased expression of TGFBR2 mRNA]	16872305
C007020	chlorophyllin	chlorophyllin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 mRNA]	22485181
C007020	chlorophyllin	chlorophyllin inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 protein]	22485181
C100187	chloropicrin	chloropicrin results in decreased expression of TGFBR2 mRNA	26352163; 28476498;
D002762	Cholecalciferol	Cholecalciferol results in increased expression of TGFBR2 mRNA	17170073
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of TGFBR2 mRNA	28472532
C418118	CI 1044	CI 1044 results in increased expression of TGFBR2 mRNA	17569694
D002945	Cisplatin	Cisplatin results in increased expression of TGFBR2 mRNA	21151649
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of TGFBR2 mRNA	19320972
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of TGFBR2 mRNA	15467011
D019327	Copper Sulfate	Copper Sulfate results in increased expression of TGFBR2 mRNA	19549813
D003474	Curcumin	Buthionine Sulfoximine inhibits the reaction [Curcumin results in decreased expression of TGFBR2 mRNA]	17602960
D003474	Curcumin	Buthionine Sulfoximine inhibits the reaction [Curcumin results in decreased expression of TGFBR2 protein]	17602960
D003474	Curcumin	Curcumin results in decreased expression of TGFBR2 mRNA	17602960
D003474	Curcumin	Curcumin results in decreased expression of TGFBR2 protein	16959952; 17602960;
D003513	Cycloheximide	Cycloheximide inhibits the reaction [tolfenamic acid results in decreased expression of TGFBR2 protein]	31381904
D003520	Cyclophosphamide	Cyclophosphamide results in increased expression of TGFBR2 mRNA	21041162
D016572	Cyclosporine	Cyclosporine results in decreased expression of TGFBR2 mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in increased expression of TGFBR2 protein	16980036
C093628	cyproconazole	cyproconazole results in increased expression of TGFBR2 mRNA	22334560
D003545	Cysteine	Cysteine results in decreased expression of TGFBR2 protein	15158331
D000077209	Decitabine	Decitabine results in increased expression of TGFBR2 mRNA	27915011
D000077209	Decitabine	[Decitabine affects the methylation of TGFBR2 protein] which affects the expression of TGFBR2 mRNA	18381416; 18381416;
D003907	Dexamethasone	Dexamethasone results in increased expression of TGFBR2 mRNA	12732289; 12782123;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of TGFBR2 mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in increased expression of TGFBR2 mRNA	21041162
D003913	Dextroamphetamine	Dextroamphetamine results in increased expression of TGFBR2 mRNA	12205029
D003913	Dextroamphetamine	SOD1 inhibits the reaction [Dextroamphetamine results in increased expression of TGFBR2 mRNA]	12205029
D003975	Diazepam	Diazepam results in increased expression of TGFBR2 mRNA	19114084
D004041	Dietary Fats	Dietary Fats results in decreased expression of TGFBR2 mRNA	25016146
D004041	Dietary Fats	Dietary Fats results in increased expression of TGFBR2 mRNA	22609946
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of TGFBR2 mRNA	31163220
D004052	Diethylnitrosamine	[Carbon Tetrachloride co-treated with Diethylnitrosamine] results in increased expression of TGFBR2 mRNA	26778414
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of TGFBR2 mRNA	24535843
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of TGFBR2 mRNA	8001232
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of TGFBR2 protein	8001232
D004052	Diethylnitrosamine	[Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of TGFBR2 mRNA	8565130
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of TGFBR2 mRNA	21041162
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of TGFBR2 mRNA	23197195
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of TGFBR2 protein	16009107
D004128	Dimethylnitrosamine	salvianolic acid B inhibits the reaction [Dimethylnitrosamine results in increased expression of TGFBR2 protein]	16009107
D015232	Dinoprostone	[CCL12 protein co-treated with Dinoprostone] affects the reaction [Bleomycin results in increased expression of TGFBR2 mRNA]	28434932
D015232	Dinoprostone	[HIF1A protein co-treated with Dinoprostone] affects the reaction [Bleomycin results in increased expression of TGFBR2 mRNA]	28434932
D015232	Dinoprostone	[MMP3 protein co-treated with Dinoprostone] affects the reaction [Bleomycin results in increased expression of TGFBR2 mRNA]	28434932
D004237	Diuron	Diuron results in decreased expression of TGFBR2 mRNA	21551480
D004317	Doxorubicin	Doxorubicin affects the expression of TGFBR2 mRNA	29803840
D004317	Doxorubicin	[[MT1 protein co-treated with MT2 protein] affects the susceptibility to Doxorubicin] which affects the expression of TGFBR2 mRNA	21040762
D004318	Doxycycline	Doxycycline inhibits the reaction [Isoproterenol results in increased expression of TGFBR2 mRNA]	18089841
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal inhibits the reaction [Carbon Tetrachloride results in increased expression of TGFBR2 mRNA]	15818738; 17163593;
D004610	Ellagic Acid	Ellagic Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 mRNA]	22485181
D004610	Ellagic Acid	Ellagic Acid inhibits the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of TGFBR2 protein]	22485181
C045651	epigallocatechin gallate	epigallocatechin gallate inhibits the reaction [IL1B protein results in decreased expression of TGFBR2 mRNA]	16206353
C109476	epoxiconazole	epoxiconazole results in increased expression of TGFBR2 mRNA	22334560
D004958	Estradiol	[Estradiol co-treated with EGF protein] results in increased expression of TGFBR2 mRNA	24758408
D004958	Estradiol	Estradiol results in increased expression of TGFBR2 mRNA	19484750
D004958	Estradiol	Estradiol results in decreased expression of TGFBR2 mRNA	7585526
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D000431	Ethanol	Ethanol results in increased expression of TGFBR2 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TGFBR2 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TGFBR2 mRNA	17942748
D005665	Furosemide	Furosemide results in increased expression of TGFBR2 mRNA	16526316
C037032	galangin	galangin results in increased expression of TGFBR2 mRNA	25268046
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D019833	Genistein	[Genistein co-treated with Methoxychlor] results in increased expression of TGFBR2 mRNA	21782745
D019833	Genistein	Genistein results in increased expression of TGFBR2 mRNA	21782745
D005839	Gentamicins	Gentamicins results in increased expression of TGFBR2 mRNA	22061828
D005947	Glucose	Glucose results in increased expression of TGFBR2 protein	21367880
D005947	Glucose	isoangustone A inhibits the reaction [Glucose results in increased expression of TGFBR2 protein]	21367880
C000593030	GSK-J4	GSK-J4 results in increased expression of TGFBR2 mRNA	29301935
D006581	Hexachlorobenzene	Hexachlorobenzene affects the expression of TGFBR2 mRNA	28923513
D006581	Hexachlorobenzene	Hexachlorobenzene affects the reaction [AHR protein affects the expression of TGFBR2 mRNA]	28923513
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of TGFBR2 mRNA	20044591
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of TGFBR2 mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of TGFBR2 mRNA	25613284
C551631	isoangustone A	isoangustone A inhibits the reaction [Glucose results in increased expression of TGFBR2 protein]	21367880
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D007545	Isoproterenol	Doxycycline inhibits the reaction [Isoproterenol results in increased expression of TGFBR2 mRNA]	18089841
D007545	Isoproterenol	Isoproterenol results in increased expression of TGFBR2 mRNA	18089841; 20003209;
D015474	Isotretinoin	Isotretinoin results in increased expression of TGFBR2 mRNA	20436886
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [BRD4 protein binds to TGFBR2 promoter]	27432991
C561695	(+)-JQ1 compound	(+)-JQ1 compound promotes the reaction [TRIM33 protein binds to TGFBR2 promoter]	27432991
C561695	(+)-JQ1 compound	TGFBR2 protein affects the reaction [TRIM33 mutant form results in decreased susceptibility to (+)-JQ1 compound]	27432991
D000077339	Leflunomide	Leflunomide results in decreased expression of TGFBR2 mRNA	28988120
D008070	Lipopolysaccharides	[Thioacetamide co-treated with Lipopolysaccharides] results in decreased expression of TGFBR2 mRNA	17621560
D008070	Lipopolysaccharides	[Thioacetamide co-treated with Lipopolysaccharides] results in decreased expression of TGFBR2 protein	17621560
D018021	Lithium Chloride	Lithium Chloride results in increased expression of TGFBR2 mRNA	23527032
D008095	Lithocholic Acid	Lithocholic Acid results in increased expression of TGFBR2 mRNA	23034213
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of TGFBR2 mRNA	21641980
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of TGFBR2 mRNA	26378955
D017258	Medroxyprogesterone Acetate	Medroxyprogesterone Acetate results in increased expression of TGFBR2 mRNA	20843944
D008694	Methamphetamine	Methamphetamine results in increased expression of TGFBR2 mRNA	29802913
D008694	Methamphetamine	Methamphetamine results in increased expression of TGFBR2 mRNA	12766323
D008694	Methamphetamine	Methamphetamine results in increased expression of TGFBR2 mRNA	15644446
D008701	Methapyrilene	Methapyrilene results in increased methylation of TGFBR2 intron	30157460
D008715	Methionine	Methionine results in decreased expression of TGFBR2 protein	15158331
D008727	Methotrexate	Methotrexate results in decreased expression of TGFBR2 mRNA	25339124
D008731	Methoxychlor	[Genistein co-treated with Methoxychlor] results in increased expression of TGFBR2 mRNA	21782745
D008731	Methoxychlor	Methoxychlor results in increased expression of TGFBR2 mRNA	21782745
D008746	Methylazoxymethanol Acetate	Methylazoxymethanol Acetate results in increased expression of TGFBR2 mRNA	28349193
C108732	methyl-beta-cyclodextrin	methyl-beta-cyclodextrin inhibits the reaction [tolfenamic acid results in decreased expression of TGFBR2 protein]	31381904
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TGFBR2 mRNA	28001369
C008493	methylselenic acid	methylselenic acid results in increased expression of TGFBR2 mRNA	18548127
C020300	monomethylarsonic acid	monomethylarsonic acid results in increased expression of TGFBR2 mRNA	17481689
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of TGFBR2 mRNA	20886546
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of TGFBR2 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of TGFBR2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of TGFBR2 mRNA	25554681; 25620056;
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of TGFBR2 mRNA	19812364
C029938	nickel sulfate	nickel sulfate results in decreased expression of TGFBR2 mRNA	22714537
D009538	Nicotine	Nicotine results in decreased expression of TGFBR2 mRNA	28555334
C007350	nitrofen	nitrofen results in decreased expression of TGFBR2 mRNA	20638522; 27822781;
C007350	nitrofen	nitrofen results in decreased expression of TGFBR2 protein	27822781
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of TGFBR2 mRNA	20188158
C044387	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in decreased expression of TGFBR2 mRNA	12756304
C042670	N-vinyl-2-pyrrolidinone	[N-vinyl-2-pyrrolidinone binds to N-vinyl-2-pyrrolidinone] which results in increased expression of TGFBR2 mRNA	22037397
C046627	osthol	[platycodin D co-treated with osthol] results in decreased expression of TGFBR2 mRNA	23603464
C046627	osthol	[platycodin D co-treated with osthol] results in decreased expression of TGFBR2 protein	23603464
D010047	Ovalbumin	[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of TGFBR2 mRNA	29067999
D010047	Ovalbumin	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in increased expression of TGFBR2 mRNA]	29067999
D019815	Oxalic Acid	Resveratrol inhibits the reaction [Oxalic Acid results in increased expression of TGFBR2 protein]	24145091
D010081	Oxazolone	Oxazolone results in decreased expression of TGFBR2 mRNA	21404309
D010100	Oxygen	Oxygen deficiency results in increased expression of TGFBR2 mRNA	16373842
D010100	Oxygen	Simvastatin inhibits the reaction [Oxygen deficiency results in increased expression of TGFBR2 mRNA]	16373842
D010269	Paraquat	Paraquat affects the expression of TGFBR2 mRNA	16854511
D010269	Paraquat	Paraquat results in increased expression of TGFBR2 mRNA	17077588; 18198484;
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of TGFBR2 protein	26879310
D020913	Perindopril	Perindopril inhibits the reaction [Carbon Tetrachloride results in increased expression of TGFBR2 mRNA]	16872305
D020913	Perindopril	Perindopril results in decreased expression of TGFBR2 mRNA	15619341
D010634	Phenobarbital	NR1I3 protein promotes the reaction [Phenobarbital results in increased expression of TGFBR2 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of TGFBR2 mRNA	19482888
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of TGFBR2 mRNA	8001232
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of TGFBR2 protein	8001232
D010634	Phenobarbital	[Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of TGFBR2 mRNA	8565130
D010634	Phenobarbital	Phenobarbital results in increased expression of TGFBR2 mRNA	22037397
D010656	Phenylephrine	Phenylephrine results in increased expression of TGFBR2 mRNA	19443575
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of TGFBR2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of TGFBR2 mRNA	19162173
C108953	platycodin D	[platycodin D co-treated with osthol] results in decreased expression of TGFBR2 mRNA	23603464
C108953	platycodin D	[platycodin D co-treated with osthol] results in decreased expression of TGFBR2 protein	23603464
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TGFBR2 mRNA	29432896
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of TGFBR2 mRNA	22714537
D011374	Progesterone	Progesterone results in increased expression of TGFBR2 mRNA	21795739
C045950	propiconazole	propiconazole results in increased expression of TGFBR2 mRNA	21278054; 22334560;
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of TGFBR2 mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of TGFBR2 protein	15580028
D011794	Quercetin	Quercetin results in increased expression of TGFBR2 mRNA	14715546
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of TGFBR2 mRNA	14699072
D000077185	Resveratrol	Resveratrol inhibits the reaction [Oxalic Acid results in increased expression of TGFBR2 protein]	24145091
D000077185	Resveratrol	Resveratrol results in increased expression of TGFBR2 protein	20637737
D012402	Rotenone	Rotenone results in decreased expression of TGFBR2 mRNA	29955902
D012402	Rotenone	Rotenone results in increased expression of TGFBR2 mRNA	28374803
C076944	salvianolic acid B	salvianolic acid B inhibits the reaction [Dimethylnitrosamine results in increased expression of TGFBR2 protein]	16009107
D012645	Selenomethionine	Selenomethionine inhibits the reaction [IL1B protein results in decreased expression of TGFBR2 mRNA]	16206353
D019821	Simvastatin	Simvastatin inhibits the reaction [Oxygen deficiency results in increased expression of TGFBR2 mRNA]	16373842
D019821	Simvastatin	Simvastatin results in decreased expression of TGFBR2 mRNA	16320597
C017947	sodium arsenite	sodium arsenite results in decreased expression of TGFBR2 mRNA	20886546
C017947	sodium arsenite	candesartan cilexetil inhibits the reaction [sodium arsenite results in increased expression of TGFBR2 protein]	27889505
C017947	sodium arsenite	sodium arsenite results in increased expression of TGFBR2 protein	27889505
D012969	Sodium Fluoride	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [Sodium Fluoride results in increased expression of TGFBR2 mRNA]	29127033
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of TGFBR2 mRNA	29127033
D013311	Streptozocin	Streptozocin results in decreased expression of TGFBR2 protein	15496156
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of TGFBR2 mRNA	21641980
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of TGFBR2 mRNA	26378955
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of TGFBR2 mRNA	31299295
D016559	Tacrolimus	Tacrolimus results in increased expression of TGFBR2 mRNA	16980036
D016559	Tacrolimus	Tacrolimus results in increased expression of TGFBR2 protein	16980036
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of TGFBR2 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of TGFBR2 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of TGFBR2 mRNA	22138414
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TGFBR2 mRNA	16443690
D013749	Tetrachlorodibenzodioxin	2,4,5,2',4',5'-hexachlorobiphenyl promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of TGFBR2 mRNA]	21851831
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TGFBR2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TGFBR2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [2,4,5,2',4',5'-hexachlorobiphenyl results in increased expression of TGFBR2 mRNA]	21851831
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TGFBR2 mRNA	21851831
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TGFBR2 mRNA	20959002
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of TGFBR2 mRNA	25613284
D013853	Thioacetamide	[Thioacetamide co-treated with Lipopolysaccharides] results in decreased expression of TGFBR2 mRNA	17621560
D013853	Thioacetamide	[Thioacetamide co-treated with Lipopolysaccharides] results in decreased expression of TGFBR2 protein	17621560
D013853	Thioacetamide	Thioacetamide results in decreased expression of TGFBR2 mRNA	17621560
D013853	Thioacetamide	Thioacetamide results in increased expression of TGFBR2 mRNA	28181416
C402769	tipifarnib	tipifarnib results in increased expression of TGFBR2 mRNA	16403772
D014028	Tobacco Smoke Pollution	EGR affects the reaction [Tobacco Smoke Pollution results in decreased expression of TGFBR2 mRNA]	20621662
D014028	Tobacco Smoke Pollution	EGR affects the reaction [Tobacco Smoke Pollution results in decreased expression of TGFBR2 protein]	20621662
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of TGFBR2 mRNA	20621662; 28065790;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of TGFBR2 protein	20621662
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of TGFBR2 protein	30572104
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased methylation of TGFBR2 intron	31039056
C009500	tolfenamic acid	CAV1 protein affects the reaction [tolfenamic acid results in decreased expression of TGFBR2 protein]	31381904
C009500	tolfenamic acid	Cycloheximide inhibits the reaction [tolfenamic acid results in decreased expression of TGFBR2 protein]	31381904
C009500	tolfenamic acid	methyl-beta-cyclodextrin inhibits the reaction [tolfenamic acid results in decreased expression of TGFBR2 protein]	31381904
C009500	tolfenamic acid	tolfenamic acid results in decreased expression of TGFBR2 protein	31381904
D014051	Toluene 2,4-Diisocyanate	Toluene 2,4-Diisocyanate results in decreased expression of TGFBR2 mRNA	21404309
C483909	torcetrapib	torcetrapib results in increased expression of TGFBR2 mRNA	23228038
D014212	Tretinoin	Tretinoin results in decreased expression of TGFBR2 mRNA	20530235
D014212	Tretinoin	Tretinoin results in decreased expression of TGFBR2	24374174
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of TGFBR2 mRNA	30951980
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of TGFBR2 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of TGFBR2 mRNA	30951980
D014212	Tretinoin	Tretinoin affects the expression of TGFBR2 mRNA	16235736
D014212	Tretinoin	Tretinoin results in decreased expression of TGFBR2 mRNA	15389595; 16410076;
D014212	Tretinoin	Tretinoin results in increased expression of TGFBR2 mRNA	24977338
C012589	trichostatin A	trichostatin A promotes the reaction [EP300 protein binds to TGFBR2 promoter]	15647279
C012589	trichostatin A	trichostatin A promotes the reaction [KAT2B protein binds to TGFBR2 promoter]	15647279
C012589	trichostatin A	trichostatin A results in increased expression of TGFBR2 mRNA	15647279
C012589	trichostatin A	trichostatin A results in increased expression of TGFBR2 protein	15647279
D014260	Triclosan	Triclosan results in decreased expression of TGFBR2 mRNA	30336175
D000077288	Troglitazone	Troglitazone results in decreased expression of TGFBR2 mRNA	25572481
D014635	Valproic Acid	Valproic Acid results in increased expression of TGFBR2 mRNA	24896083
D000068756	Valsartan	Valsartan inhibits the reaction [Carbon Tetrachloride results in increased expression of TGFBR2 mRNA]	16872305
D000068756	Valsartan	Valsartan results in decreased expression of TGFBR2 mRNA	15619341
D014638	Vanadates	Vanadates results in increased expression of TGFBR2 mRNA	22714537
D014640	Vancomycin	Vancomycin results in decreased expression of TGFBR2 mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of TGFBR2 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of TGFBR2 mRNA	19015723
D014801	Vitamin A	Vitamin A results in increased expression of TGFBR2 mRNA	17225872
D024483	Vitamin K 3	Vitamin K 3 affects the expression of TGFBR2 mRNA	20044591

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0993	Aortic aneurysm
KW-0053	Apoptosis
KW-0067	ATP-binding
KW-1003	Cell membrane
KW-0989	Craniosynostosis
KW-0221	Differentiation
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0341	Growth regulation
KW-0362	Hereditary nonpolyposis colorectal cancer
KW-0418	Kinase
KW-0460	Magnesium
KW-0464	Manganese
KW-0472	Membrane
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0732	Signal
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR001245	Ser-Thr/Tyr_kinase_cat_dom
IPR008271	Ser/Thr_kinase_AS
IPR000333	TGFB_receptor
IPR017194	Transform_growth_fac-b_typ-2
IPR015013	Transforming_GF_b_rcpt_2_ecto

PROSITE

PROSITE ID	PROSITE Term
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF08917	ecTbetaR2
PF07714	Pkinase_Tyr

Gene: TGFBR2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction