CleftGeneDB-Search

Gene: TBX2

Basic information

Tag	Content
Uniprot ID	Q13207; Q16424; Q7Z647;
Entrez ID	6909
Genbank protein ID	AAA73861.1; AAH52566.1; AAB36216.1;
Genbank nucleotide ID	NM_005994.3
Ensembl protein ID	ENSP00000240328
Ensembl nucleotide ID	ENSG00000121068
Gene name	T-box transcription factor TBX2
Gene symbol	TBX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation.
Sequence	MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALAK PLPDPGLAGA 60 AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE VEDDPKVTLE AKELWDQFHK 120 LGTEMVITKS GRRMFPPFKV RVSGLDKKAK YILLMDIVAA DDCRYKFHNS RWMVAGKADP 180 EMPKRMYIHP DSPATGEQWM AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN 240 DILKLPYSTF RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT 300 LPSLRLYEEH CKPERDGAES DASSCDPPPA REPPTSPGAA PSPLRLHRAR AEEKSCAADS 360 DPEPERLSEE RAGAPLGRSP APDSASPTRL TEPERARERR SPERGKEPAE SGGDGPFGLR 420 SLEKERAEAR RKDEGRKEAA EGKEQGLAPL VVQTDSASPL GAGHLPGLAF SSHLHGQQFF 480 GPLGAGQPLF LHPGQFTMGP GAFSAMGMGH LLASVAGGGN GGGGGPGTAA GLDAGGLGPA 540 ASAASTAAPF PFHLSQHMLA SQGIPMPTFG GLFPYPYTYM AAAAAAASAL PATSAAAAAA 600 AAAGSLSRSP FLGSARPRLR FSPYQIPVTI PPSTSLLTTG LASEGSKAAG GNSREPSPLP 660 ELALRKVGAP SRGALSPSGS AKEAANELQS IQRLVSGLES QRALSPGRES PK 712

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	TBX2	535982	E1BLY0		Bos taurus	Prediction	More>>
1:1 ortholog	TBX2		J9NV98		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TBX2		A0A452EL03		Capra hircus	Prediction	More>>
1:1 ortholog	TBX2	6909	Q13207		Homo sapiens	Prediction	More>>
1:1 ortholog	Tbx2	21385	Q60707	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TBX2	454800	H2QDL3		Pan troglodytes	Prediction	More>>
1:1 ortholog	TBX2	100622658	F8SIP4		Sus scrofa	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs754766050	p.Pro4Leu	missense variant	-	NC_000017.11:g.61400187C>T	ExAC,TOPMed,gnomAD
rs1179281640	p.Pro4Ser	missense variant	-	NC_000017.11:g.61400186C>T	TOPMed
rs781121351	p.Ala5Thr	missense variant	-	NC_000017.11:g.61400189G>A	ExAC,TOPMed,gnomAD
rs1291228442	p.Ala5Glu	missense variant	-	NC_000017.11:g.61400190C>A	gnomAD
rs1031446573	p.Leu6Arg	missense variant	-	NC_000017.11:g.61400193T>G	TOPMed
rs1057976	p.Ala7Thr	missense variant	-	NC_000017.11:g.61400195G>A	TOPMed
rs1458507909	p.Ala7Val	missense variant	-	NC_000017.11:g.61400196C>T	gnomAD
rs1246452882	p.Ala8Thr	missense variant	-	NC_000017.11:g.61400198G>A	gnomAD
rs1246452882	p.Ala8Pro	missense variant	-	NC_000017.11:g.61400198G>C	gnomAD
rs1246452882	p.Ala8Ser	missense variant	-	NC_000017.11:g.61400198G>T	gnomAD
rs748026437	p.Ser9Ile	missense variant	-	NC_000017.11:g.61400202G>T	ExAC,TOPMed,gnomAD
rs748026437	p.Ser9Thr	missense variant	-	NC_000017.11:g.61400202G>C	ExAC,TOPMed,gnomAD
rs756092997	p.Ser9Arg	missense variant	-	NC_000017.11:g.61400203C>A	ExAC,gnomAD
rs777818572	p.Ala10Ser	missense variant	-	NC_000017.11:g.61400204G>T	ExAC,gnomAD
rs1374132531	p.Met11Thr	missense variant	-	NC_000017.11:g.61400208T>C	TOPMed
rs748704480	p.Ala12Val	missense variant	-	NC_000017.11:g.61400211C>T	ExAC,TOPMed,gnomAD
rs1308114018	p.Ala12Ser	missense variant	-	NC_000017.11:g.61400210G>T	TOPMed
rs770476950	p.Tyr13His	missense variant	-	NC_000017.11:g.61400213T>C	ExAC,gnomAD
rs1374843347	p.His14Tyr	missense variant	-	NC_000017.11:g.61400216C>T	TOPMed
NCI-TCGA novel	p.Phe16Ile	missense variant	-	NC_000017.11:g.61400222T>A	NCI-TCGA
rs1406967777	p.Ala18Val	missense variant	-	NC_000017.11:g.61400229C>T	gnomAD
rs1406967777	p.Ala18Glu	missense variant	-	NC_000017.11:g.61400229C>A	gnomAD
rs1364709483	p.Arg20Gln	missense variant	-	NC_000017.11:g.61400235G>A	TOPMed,gnomAD
RCV000723359	p.Arg20Gln	missense variant	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (VETD)	NC_000017.11:g.61400235G>A	ClinVar
RCV000625998	p.Arg20Gln	missense variant	-	NC_000017.11:g.61400235G>A	ClinVar
rs1410117068	p.Pro21Thr	missense variant	-	NC_000017.11:g.61400237C>A	TOPMed,gnomAD
rs771778245	p.Ala22Ser	missense variant	-	NC_000017.11:g.61400240G>T	ExAC,gnomAD
rs1379875556	p.Met26Lys	missense variant	-	NC_000017.11:g.61400253T>A	TOPMed
rs775800585	p.Ser27Cys	missense variant	-	NC_000017.11:g.61400256C>G	ExAC,TOPMed,gnomAD
rs768992923	p.Ala31Glu	missense variant	-	NC_000017.11:g.61400268C>A	ExAC,gnomAD
rs1421160065	p.Ala32Val	missense variant	-	NC_000017.11:g.61400271C>T	TOPMed
rs1249893998	p.Phe38Leu	missense variant	-	NC_000017.11:g.61400288T>C	gnomAD
rs765373613	p.Pro39Gln	missense variant	-	NC_000017.11:g.61400292C>A	ExAC,TOPMed,gnomAD
rs1482817952	p.Pro39Ser	missense variant	-	NC_000017.11:g.61400291C>T	gnomAD
rs1473765583	p.Ala40Ser	missense variant	-	NC_000017.11:g.61400294G>T	gnomAD
rs766751812	p.Ala42Val	missense variant	-	NC_000017.11:g.61400301C>T	ExAC,gnomAD
rs763267863	p.Ala42Thr	missense variant	-	NC_000017.11:g.61400300G>A	ExAC,gnomAD
rs1390426411	p.Pro44Gln	missense variant	-	NC_000017.11:g.61400307C>A	TOPMed,gnomAD
rs1341715116	p.Gly46Arg	missense variant	-	NC_000017.11:g.61400312G>C	gnomAD
rs1341715116	p.Gly46Ser	missense variant	-	NC_000017.11:g.61400312G>A	gnomAD
rs755997921	p.Gly46Asp	missense variant	-	NC_000017.11:g.61400313G>A	ExAC,TOPMed,gnomAD
rs753823876	p.Ala47Glu	missense variant	-	NC_000017.11:g.61400316C>A	ExAC,gnomAD
rs757195340	p.Pro51Gln	missense variant	-	NC_000017.11:g.61400328C>A	ExAC,TOPMed,gnomAD
rs1310182116	p.Pro51Thr	missense variant	-	NC_000017.11:g.61400327C>A	gnomAD
rs1455538072	p.Leu52Pro	missense variant	-	NC_000017.11:g.61400331T>C	TOPMed
rs1258424491	p.Pro53Arg	missense variant	-	NC_000017.11:g.61400334C>G	gnomAD
NCI-TCGA novel	p.Asp54Tyr	missense variant	-	NC_000017.11:g.61400336G>T	NCI-TCGA
rs1048308922	p.Pro55Leu	missense variant	-	NC_000017.11:g.61400340C>T	TOPMed
rs1433871216	p.Pro55Ser	missense variant	-	NC_000017.11:g.61400339C>T	TOPMed
rs1048308922	p.Pro55Gln	missense variant	-	NC_000017.11:g.61400340C>A	TOPMed
rs867023713	p.Gly59Glu	missense variant	-	NC_000017.11:g.61400352G>A	gnomAD
rs1323583331	p.Ala62Val	missense variant	-	NC_000017.11:g.61400361C>T	TOPMed
rs1221726143	p.Ala62Thr	missense variant	-	NC_000017.11:g.61400360G>A	TOPMed,gnomAD
rs1470451562	p.Ala63Glu	missense variant	-	NC_000017.11:g.61400364C>A	TOPMed
rs901242277	p.Ala63Thr	missense variant	-	NC_000017.11:g.61400363G>A	TOPMed,gnomAD
rs901242277	p.Ala63Ser	missense variant	-	NC_000017.11:g.61400363G>T	TOPMed,gnomAD
rs1168700579	p.Ala64Val	missense variant	-	NC_000017.11:g.61400367C>T	TOPMed
rs564411433	p.Ala67Gly	missense variant	-	NC_000017.11:g.61400376C>G	1000Genomes
rs1186036074	p.Ala69Thr	missense variant	-	NC_000017.11:g.61400381G>A	TOPMed,gnomAD
rs533394938	p.Ala69Val	missense variant	-	NC_000017.11:g.61400382C>T	1000Genomes,ExAC,gnomAD
rs1186036074	p.Ala69Ser	missense variant	-	NC_000017.11:g.61400381G>T	TOPMed,gnomAD
rs1461212074	p.Ala71Thr	missense variant	-	NC_000017.11:g.61400387G>A	gnomAD
rs1416287154	p.Glu72Lys	missense variant	-	NC_000017.11:g.61400390G>A	gnomAD
rs1022494087	p.Glu72Ala	missense variant	-	NC_000017.11:g.61400391A>C	TOPMed,gnomAD
rs1264457431	p.Ala73Glu	missense variant	-	NC_000017.11:g.61400394C>A	TOPMed
rs771690050	p.Ala73Pro	missense variant	-	NC_000017.11:g.61400393G>C	ExAC,gnomAD
rs779701751	p.Gly74Glu	missense variant	-	NC_000017.11:g.61400397G>A	ExAC,TOPMed,gnomAD
rs549885020	p.His76Gln	missense variant	-	NC_000017.11:g.61400404C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His76Arg	missense variant	-	NC_000017.11:g.61400403A>G	NCI-TCGA
rs1295913604	p.Ser78Leu	missense variant	-	NC_000017.11:g.61400409C>T	gnomAD
rs762368697	p.Pro82Leu	missense variant	-	NC_000017.11:g.61400421C>T	ExAC,TOPMed,gnomAD
rs762368697	p.Pro82Gln	missense variant	-	NC_000017.11:g.61400421C>A	ExAC,TOPMed,gnomAD
rs1417724940	p.His83Gln	missense variant	-	NC_000017.11:g.61400425C>A	TOPMed,gnomAD
rs370025489	p.His83Arg	missense variant	-	NC_000017.11:g.61400424A>G	ESP,gnomAD
rs370025489	p.His83Pro	missense variant	-	NC_000017.11:g.61400424A>C	ESP,gnomAD
rs373741482	p.Pro84Thr	missense variant	-	NC_000017.11:g.61400426C>A	ESP,ExAC,TOPMed,gnomAD
rs1210493837	p.Pro85Arg	missense variant	-	NC_000017.11:g.61400430C>G	TOPMed,gnomAD
rs766662154	p.Ala86Val	missense variant	-	NC_000017.11:g.61400433C>T	ExAC,gnomAD
rs1397786159	p.Leu89Val	missense variant	-	NC_000017.11:g.61400441C>G	TOPMed
rs1360887442	p.Leu89Gln	missense variant	-	NC_000017.11:g.61400442T>A	TOPMed,gnomAD
rs1379017045	p.Arg90Pro	missense variant	-	NC_000017.11:g.61400445G>C	TOPMed,gnomAD
rs1199218826	p.Arg90Cys	missense variant	-	NC_000017.11:g.61400444C>T	gnomAD
rs960923591	p.Leu92Val	missense variant	-	NC_000017.11:g.61400450C>G	TOPMed,gnomAD
rs960923591	p.Leu92Phe	missense variant	-	NC_000017.11:g.61400450C>T	TOPMed,gnomAD
rs918353769	p.Ser94Asn	missense variant	-	NC_000017.11:g.61400457G>A	TOPMed
rs951021132	p.Pro97Ala	missense variant	-	NC_000017.11:g.61400465C>G	TOPMed
rs1319126868	p.Asp99Asn	missense variant	-	NC_000017.11:g.61400471G>A	gnomAD
rs1319126868	p.Asp99His	missense variant	-	NC_000017.11:g.61400471G>C	gnomAD
rs1387725570	p.Glu102Lys	missense variant	-	NC_000017.11:g.61400480G>A	gnomAD
rs1303802329	p.Glu102Asp	missense variant	-	NC_000017.11:g.61400482G>C	gnomAD
rs1329600365	p.Asp104Tyr	missense variant	-	NC_000017.11:g.61400486G>T	gnomAD
rs1264566568	p.Pro105Ser	missense variant	-	NC_000017.11:g.61400489C>T	TOPMed
rs1331302385	p.Lys106Arg	missense variant	-	NC_000017.11:g.61400493A>G	gnomAD
rs753638712	p.Thr108Met	missense variant	-	NC_000017.11:g.61400499C>T	ExAC,gnomAD
rs749885279	p.Lys112Asn	missense variant	-	NC_000017.11:g.61400512G>T	ExAC,gnomAD
rs778763621	p.Lys112Arg	missense variant	-	NC_000017.11:g.61400511A>G	ExAC,gnomAD
rs746678515	p.Asp116Tyr	missense variant	-	NC_000017.11:g.61400522G>T	ExAC,TOPMed,gnomAD
rs746678515	p.Asp116Asn	missense variant	-	NC_000017.11:g.61400522G>A	ExAC,TOPMed,gnomAD
rs1156245231	p.Gln117Ter	stop gained	-	NC_000017.11:g.61400525C>T	gnomAD
rs371215240	p.Val126Ile	missense variant	-	NC_000017.11:g.61400552G>A	ESP,ExAC,gnomAD
rs749342198	p.Ile127Thr	missense variant	-	NC_000017.11:g.61400556T>C	ExAC,gnomAD
rs1404632537	p.Ile127Val	missense variant	-	NC_000017.11:g.61400555A>G	gnomAD
rs1352483701	p.Ser130Thr	missense variant	-	NC_000017.11:g.61400564T>A	gnomAD
rs1226661043	p.Gly131Arg	missense variant	-	NC_000017.11:g.61400567G>A	gnomAD
COSM4546355	p.Arg133Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401686G>A	NCI-TCGA Cosmic
rs1215572992	p.Met134Ile	missense variant	-	NC_000017.11:g.61401690G>C	TOPMed
rs1359893522	p.Met134Leu	missense variant	-	NC_000017.11:g.61401688A>C	gnomAD
rs778364019	p.Pro137Thr	missense variant	-	NC_000017.11:g.61401697C>A	ExAC,TOPMed,gnomAD
rs771628572	p.Pro137Arg	missense variant	-	NC_000017.11:g.61401698C>G	ExAC,TOPMed,gnomAD
rs771628572	p.Pro137His	missense variant	-	NC_000017.11:g.61401698C>A	ExAC,TOPMed,gnomAD
rs778364019	p.Pro137Ser	missense variant	-	NC_000017.11:g.61401697C>T	ExAC,TOPMed,gnomAD
rs778364019	p.Pro137Ala	missense variant	-	NC_000017.11:g.61401697C>G	ExAC,TOPMed,gnomAD
rs771628572	p.Pro137Leu	missense variant	-	NC_000017.11:g.61401698C>T	ExAC,TOPMed,gnomAD
COSM1723310	p.Phe138SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61401693C>-	NCI-TCGA Cosmic
rs772288115	p.Lys139Arg	missense variant	-	NC_000017.11:g.61401704A>G	ExAC,TOPMed,gnomAD
rs1450119103	p.Lys139Gln	missense variant	-	NC_000017.11:g.61401703A>C	TOPMed
rs772288115	p.Lys139Thr	missense variant	-	NC_000017.11:g.61401704A>C	ExAC,TOPMed,gnomAD
rs761600564	p.Arg141Gln	missense variant	-	NC_000017.11:g.61401710G>A	ExAC,gnomAD
rs139125476	p.Val142Leu	missense variant	-	NC_000017.11:g.61401712G>C	ESP,TOPMed,gnomAD
rs147490001	p.Ser143Arg	missense variant	-	NC_000017.11:g.61401717C>G	ESP,TOPMed,gnomAD
rs147490001	p.Ser143Arg	missense variant	-	NC_000017.11:g.61401717C>A	ESP,TOPMed,gnomAD
rs1183731294	p.Gly144Ser	missense variant	-	NC_000017.11:g.61401718G>A	TOPMed
rs148128428	p.Lys148Gln	missense variant	-	NC_000017.11:g.61401730A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766344994	p.Ala149Val	missense variant	-	NC_000017.11:g.61401734C>T	ExAC,gnomAD
rs200545971	p.Tyr151Cys	missense variant	-	NC_000017.11:g.61401740A>G	ESP,TOPMed,gnomAD
rs369378137	p.Ile152Phe	missense variant	-	NC_000017.11:g.61401742A>T	ESP,TOPMed,gnomAD
rs751063145	p.Ile152Ser	missense variant	-	NC_000017.11:g.61401743T>G	ExAC,TOPMed,gnomAD
rs751063145	p.Ile152Asn	missense variant	-	NC_000017.11:g.61401743T>A	ExAC,TOPMed,gnomAD
rs141951250	p.Met155Thr	missense variant	-	NC_000017.11:g.61401752T>C	ESP,ExAC,TOPMed,gnomAD
rs1347873514	p.Met155Ile	missense variant	-	NC_000017.11:g.61401753G>A	gnomAD
rs754473056	p.Met155Val	missense variant	-	NC_000017.11:g.61401751A>G	ExAC,gnomAD
COSM4940533	p.Met155Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401751A>T	NCI-TCGA Cosmic
rs1358368341	p.Asp156Asn	missense variant	-	NC_000017.11:g.61401754G>A	TOPMed
rs752299385	p.Ile157Met	missense variant	-	NC_000017.11:g.61401759T>G	ExAC,gnomAD
rs1229581007	p.Ala160Thr	missense variant	-	NC_000017.11:g.61401766G>A	TOPMed
rs1321130948	p.Asp161Glu	missense variant	-	NC_000017.11:g.61401771C>A	TOPMed,gnomAD
rs1346822633	p.Asp162Asn	missense variant	-	NC_000017.11:g.61401772G>A	gnomAD
rs1034013843	p.Cys163Tyr	missense variant	-	NC_000017.11:g.61401776G>A	TOPMed
rs1217985899	p.Asn169Ser	missense variant	-	NC_000017.11:g.61401794A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser170Trp	missense variant	-	NC_000017.11:g.61401797C>G	NCI-TCGA
NCI-TCGA novel	p.Ser170Leu	missense variant	-	NC_000017.11:g.61401797C>T	NCI-TCGA
rs778275904	p.Arg171Leu	missense variant	-	NC_000017.11:g.61401800G>T	ExAC,TOPMed,gnomAD
rs778275904	p.Arg171His	missense variant	-	NC_000017.11:g.61401800G>A	ExAC,TOPMed,gnomAD
COSM982240	p.Arg171Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401799C>T	NCI-TCGA Cosmic
rs754291720	p.Gly176Asp	missense variant	-	NC_000017.11:g.61401815G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly176Cys	missense variant	-	NC_000017.11:g.61401814G>T	NCI-TCGA
rs1025055045	p.Lys177Asn	missense variant	-	NC_000017.11:g.61401819G>T	TOPMed
rs950886535	p.Ala178Ser	missense variant	-	NC_000017.11:g.61401820G>T	TOPMed
rs1445727717	p.Pro180Arg	missense variant	-	NC_000017.11:g.61401827C>G	gnomAD
COSM3795893	p.Glu181Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401829G>A	NCI-TCGA Cosmic
rs779585007	p.Pro183Ser	missense variant	-	NC_000017.11:g.61401835C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro183Thr	missense variant	-	NC_000017.11:g.61401835C>A	NCI-TCGA
rs1417358712	p.Lys184Arg	missense variant	-	NC_000017.11:g.61401839A>G	TOPMed
rs201793266	p.Arg185His	missense variant	-	NC_000017.11:g.61401842G>A	ESP,ExAC,TOPMed,gnomAD
rs201793266	p.Arg185Pro	missense variant	-	NC_000017.11:g.61401842G>C	ESP,ExAC,TOPMed,gnomAD
rs201793266	p.Arg185Leu	missense variant	-	NC_000017.11:g.61401842G>T	ESP,ExAC,TOPMed,gnomAD
rs745919438	p.Arg185Cys	missense variant	-	NC_000017.11:g.61401841C>T	ExAC,gnomAD
rs1204050449	p.Met186Val	missense variant	-	NC_000017.11:g.61401844A>G	gnomAD
NCI-TCGA novel	p.Tyr187Cys	missense variant	-	NC_000017.11:g.61401848A>G	NCI-TCGA
rs747185970	p.Ile188Val	missense variant	-	NC_000017.11:g.61401850A>G	ExAC,gnomAD
rs573739161	p.His189Gln	missense variant	-	NC_000017.11:g.61401855C>G	1000Genomes,ExAC,gnomAD
rs1473859474	p.Asp191His	missense variant	-	NC_000017.11:g.61401859G>C	TOPMed
rs1161395863	p.Ser192Ile	missense variant	-	NC_000017.11:g.61401863G>T	gnomAD
rs374991370	p.Ala194Asp	missense variant	-	NC_000017.11:g.61401869C>A	ESP,ExAC,TOPMed,gnomAD
rs772959812	p.Ala194Thr	missense variant	-	NC_000017.11:g.61401868G>A	ExAC,gnomAD
rs770811220	p.Thr195Met	missense variant	-	NC_000017.11:g.61401872C>T	ExAC,gnomAD
rs1406453476	p.Glu197Gln	missense variant	-	NC_000017.11:g.61401877G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu197GlyPheSerTerUnk	frameshift	-	NC_000017.11:g.61401872_61401873insG	NCI-TCGA
NCI-TCGA novel	p.Glu197SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.61401873G>-	NCI-TCGA
rs1300900305	p.Gln198Arg	missense variant	-	NC_000017.11:g.61401881A>G	gnomAD
NCI-TCGA novel	p.Gln198AlaPheSerTerUnk	frameshift	-	NC_000017.11:g.61401877_61401878insA	NCI-TCGA
rs1409927318	p.Met200Thr	missense variant	-	NC_000017.11:g.61401887T>C	gnomAD
rs759023058	p.Ala201Thr	missense variant	-	NC_000017.11:g.61401889G>A	ExAC,gnomAD
rs1349209832	p.Pro203Ser	missense variant	-	NC_000017.11:g.61401895C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro203His	missense variant	-	NC_000017.11:g.61401896C>A	NCI-TCGA
rs1291107880	p.Val204Ala	missense variant	-	NC_000017.11:g.61401899T>C	gnomAD
rs752316214	p.Phe206Tyr	missense variant	-	NC_000017.11:g.61401905T>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe206Leu	missense variant	-	NC_000017.11:g.61401906C>A	NCI-TCGA
NCI-TCGA novel	p.His207Tyr	missense variant	-	NC_000017.11:g.61401907C>T	NCI-TCGA
rs760368587	p.Lys208Arg	missense variant	-	NC_000017.11:g.61401911A>G	ExAC,TOPMed,gnomAD
rs760368587	p.Lys208Met	missense variant	-	NC_000017.11:g.61401911A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu209Met	missense variant	-	NC_000017.11:g.61401913C>A	NCI-TCGA
rs1231220422	p.Ile215Val	missense variant	-	NC_000017.11:g.61401931A>G	gnomAD
rs757727651	p.Asp217Tyr	missense variant	-	NC_000017.11:g.61401937G>T	ExAC,gnomAD
rs1453660758	p.Asp217Glu	missense variant	-	NC_000017.11:g.61401939C>A	TOPMed,gnomAD
COSM4068407	p.Lys218Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401940A>G	NCI-TCGA Cosmic
rs779408815	p.His219Gln	missense variant	-	NC_000017.11:g.61401945C>G	ExAC,TOPMed,gnomAD
rs1404152384	p.His219Leu	missense variant	-	NC_000017.11:g.61401944A>T	TOPMed
NCI-TCGA novel	p.His219Tyr	missense variant	-	NC_000017.11:g.61401943C>T	NCI-TCGA
rs759002822	p.Gly220Ser	missense variant	-	NC_000017.11:g.61401946G>A	ExAC,TOPMed,gnomAD
rs773427151	p.Ile223Val	missense variant	-	NC_000017.11:g.61403064A>G	ExAC,gnomAD
rs763398451	p.Leu224Val	missense variant	-	NC_000017.11:g.61403067C>G	ExAC,gnomAD
rs1274588227	p.His228Tyr	missense variant	-	NC_000017.11:g.61403079C>T	TOPMed
rs1355609945	p.Pro232Thr	missense variant	-	NC_000017.11:g.61403091C>A	TOPMed
COSM4068408	p.Pro232Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61403091C>T	NCI-TCGA Cosmic
rs754996717	p.Arg233Leu	missense variant	-	NC_000017.11:g.61403095G>T	ExAC,gnomAD
rs1468757353	p.Ile236Val	missense variant	-	NC_000017.11:g.61403103A>G	gnomAD
rs1336648384	p.Ile236Thr	missense variant	-	NC_000017.11:g.61403104T>C	TOPMed,gnomAD
rs767574262	p.Val237Leu	missense variant	-	NC_000017.11:g.61403106G>C	ExAC,TOPMed,gnomAD
rs1316618064	p.Arg238Gln	missense variant	-	NC_000017.11:g.61403110G>A	gnomAD
rs1410671793	p.Asn240Ile	missense variant	-	NC_000017.11:g.61403116A>T	TOPMed
rs970533000	p.Asn240Lys	missense variant	-	NC_000017.11:g.61403117C>A	TOPMed,gnomAD
rs1234208260	p.Asp241His	missense variant	-	NC_000017.11:g.61403118G>C	TOPMed,gnomAD
COSM1303143	p.Asp241Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61403119A>G	NCI-TCGA Cosmic
rs1167768748	p.Ser248Asn	missense variant	-	NC_000017.11:g.61403140G>A	TOPMed
rs778075071	p.Thr249Ile	missense variant	-	NC_000017.11:g.61403143C>T	ExAC,TOPMed,gnomAD
rs756265719	p.Thr249Ser	missense variant	-	NC_000017.11:g.61403142A>T	ExAC,TOPMed,gnomAD
rs374486125	p.Arg251His	missense variant	-	NC_000017.11:g.61403149G>A	ESP,ExAC,gnomAD
rs1206700661	p.Thr252Asn	missense variant	-	NC_000017.11:g.61403152C>A	gnomAD
COSM1384980	p.Thr252Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61403151A>G	NCI-TCGA Cosmic
rs201360135	p.Val254Met	missense variant	-	NC_000017.11:g.61403157G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201360135	p.Val254Leu	missense variant	-	NC_000017.11:g.61403157G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201360135	p.Val254Leu	missense variant	-	NC_000017.11:g.61403157G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs957229121	p.Pro256Ser	missense variant	-	NC_000017.11:g.61403163C>T	TOPMed
rs1479173796	p.Pro256Leu	missense variant	-	NC_000017.11:g.61403164C>T	gnomAD
rs768782504	p.Thr258Ile	missense variant	-	NC_000017.11:g.61403170C>T	ExAC,TOPMed,gnomAD
rs776252332	p.Asp259Gly	missense variant	-	NC_000017.11:g.61403173A>G	ExAC,TOPMed,gnomAD
rs747744056	p.Asp259Glu	missense variant	-	NC_000017.11:g.61403174C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala262Val	missense variant	-	NC_000017.11:g.61403182C>T	NCI-TCGA
rs1224520699	p.Val263Gly	missense variant	-	NC_000017.11:g.61403185T>G	TOPMed
rs1292036296	p.Gln267Glu	missense variant	-	NC_000017.11:g.61403196C>G	TOPMed
NCI-TCGA novel	p.Gln267His	missense variant	-	NC_000017.11:g.61403198G>C	NCI-TCGA
rs763165207	p.Lys270Asn	missense variant	-	NC_000017.11:g.61403207G>C	ExAC,gnomAD
rs1289019954	p.Lys270Glu	missense variant	-	NC_000017.11:g.61403205A>G	gnomAD
rs373803011	p.Leu274Met	missense variant	-	NC_000017.11:g.61404430C>A	ESP,TOPMed,gnomAD
rs1380302085	p.Asn278Tyr	missense variant	-	NC_000017.11:g.61404442A>T	gnomAD
rs762064809	p.Pro280Gln	missense variant	-	NC_000017.11:g.61404449C>A	ExAC,gnomAD
COSM982242	p.Phe281Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61404452T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp287Asn	missense variant	-	NC_000017.11:g.61404469G>A	NCI-TCGA
rs754853668	p.Thr288Ser	missense variant	-	NC_000017.11:g.61404473C>G	ExAC,gnomAD
rs781211904	p.Gly289Arg	missense variant	-	NC_000017.11:g.61404475G>A	ExAC,TOPMed,gnomAD
COSM706583	p.Asn290Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61404478A>T	NCI-TCGA Cosmic
rs756068959	p.Arg293Trp	missense variant	-	NC_000017.11:g.61404487C>T	ExAC,TOPMed,gnomAD
rs748794461	p.Glu294Gln	missense variant	-	NC_000017.11:g.61404490G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg296Met	missense variant	-	NC_000017.11:g.61404497G>T	NCI-TCGA
rs769157834	p.Thr300Met	missense variant	-	NC_000017.11:g.61404617C>T	ExAC,TOPMed,gnomAD
rs769157834	p.Thr300Arg	missense variant	-	NC_000017.11:g.61404617C>G	ExAC,TOPMed,gnomAD
rs1292808774	p.Pro302Thr	missense variant	-	NC_000017.11:g.61404622C>A	gnomAD
rs1490890241	p.Pro302Leu	missense variant	-	NC_000017.11:g.61404623C>T	TOPMed,gnomAD
rs1490890241	p.Pro302Gln	missense variant	-	NC_000017.11:g.61404623C>A	TOPMed,gnomAD
rs146171999	p.Leu304Pro	missense variant	-	NC_000017.11:g.61404629T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200245762	p.Leu304Val	missense variant	-	NC_000017.11:g.61404628C>G	ExAC,TOPMed,gnomAD
rs201407399	p.Arg305Ser	missense variant	-	NC_000017.11:g.61404631C>A	ESP,ExAC,TOPMed,gnomAD
rs1555877071	p.Arg305His	missense variant	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)	NC_000017.11:g.61404632G>A	UniProt,dbSNP
VAR_081781	p.Arg305His	missense variant	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)	NC_000017.11:g.61404632G>A	UniProt
rs1555877071	p.Arg305His	missense variant	-	NC_000017.11:g.61404632G>A	-
RCV000624455	p.Arg305His	missense variant	Inborn genetic diseases	NC_000017.11:g.61404632G>A	ClinVar
rs766552926	p.Glu308Gln	missense variant	-	NC_000017.11:g.61404640G>C	ExAC,gnomAD
rs1426131745	p.Cys311Arg	missense variant	-	NC_000017.11:g.61404649T>C	gnomAD
rs760414139	p.Glu314Lys	missense variant	-	NC_000017.11:g.61404658G>A	ExAC,gnomAD
rs764022876	p.Arg315Gly	missense variant	-	NC_000017.11:g.61404661C>G	ExAC,gnomAD
rs753784724	p.Asp316Asn	missense variant	-	NC_000017.11:g.61404664G>A	ExAC,gnomAD
rs1300270436	p.Asp316Glu	missense variant	-	NC_000017.11:g.61404666T>G	TOPMed
NCI-TCGA novel	p.Gly317Val	missense variant	-	NC_000017.11:g.61404668G>T	NCI-TCGA
rs1292917610	p.Ala318Thr	missense variant	-	NC_000017.11:g.61404670G>A	gnomAD
rs376284632	p.Ala318Val	missense variant	-	NC_000017.11:g.61404671C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376284632	p.Ala318Glu	missense variant	-	NC_000017.11:g.61404671C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749975428	p.Asp321Asn	missense variant	-	NC_000017.11:g.61404679G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp321Glu	missense variant	-	NC_000017.11:g.61404681C>A	NCI-TCGA
rs139114561	p.Ala322Val	missense variant	-	NC_000017.11:g.61404683C>T	ESP
rs1164565625	p.Ala322Ser	missense variant	-	NC_000017.11:g.61404682G>T	gnomAD
rs1438473592	p.Ser323Trp	missense variant	-	NC_000017.11:g.61404686C>G	gnomAD
rs371433791	p.Ser324Leu	missense variant	-	NC_000017.11:g.61404689C>T	ESP,ExAC,TOPMed,gnomAD
rs371433791	p.Ser324Trp	missense variant	-	NC_000017.11:g.61404689C>G	ESP,ExAC,TOPMed,gnomAD
rs779596450	p.Asp326Tyr	missense variant	-	NC_000017.11:g.61404694G>T	ExAC
rs1468503229	p.Pro327Leu	missense variant	-	NC_000017.11:g.61404698C>T	TOPMed,gnomAD
rs755304221	p.Pro328Leu	missense variant	-	NC_000017.11:g.61404701C>T	ExAC,TOPMed,gnomAD
rs747359210	p.Pro328Thr	missense variant	-	NC_000017.11:g.61404700C>A	ExAC,TOPMed,gnomAD
rs747359210	p.Pro328Ser	missense variant	-	NC_000017.11:g.61404700C>T	ExAC,TOPMed,gnomAD
rs182290035	p.Pro329Arg	missense variant	-	NC_000017.11:g.61404704C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs866923288	p.Pro329Ala	missense variant	-	NC_000017.11:g.61404703C>G	TOPMed,gnomAD
rs182290035	p.Pro329His	missense variant	-	NC_000017.11:g.61404704C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs866923288	p.Pro329Ser	missense variant	-	NC_000017.11:g.61404703C>T	TOPMed,gnomAD
rs113676723	p.Ala330Ser	missense variant	-	NC_000017.11:g.61404706G>T	ExAC,TOPMed,gnomAD
rs770492149	p.Arg331Trp	missense variant	-	NC_000017.11:g.61404709C>T	ExAC,TOPMed,gnomAD
rs1316239426	p.Pro333Thr	missense variant	-	NC_000017.11:g.61404715C>A	TOPMed,gnomAD
rs1385424993	p.Pro333Leu	missense variant	-	NC_000017.11:g.61404716C>T	gnomAD
rs1216439787	p.Pro337Ser	missense variant	-	NC_000017.11:g.61404727C>T	gnomAD
rs1197921404	p.Gly338Asp	missense variant	-	NC_000017.11:g.61404731G>A	gnomAD
rs1456426459	p.Gly338Ser	missense variant	-	NC_000017.11:g.61404730G>A	gnomAD
rs1462495530	p.Ala339Ser	missense variant	-	NC_000017.11:g.61404733G>T	gnomAD
rs1181469768	p.Ala339Glu	missense variant	-	NC_000017.11:g.61404734C>A	gnomAD
rs768320221	p.Pro343Leu	missense variant	-	NC_000017.11:g.61404746C>T	ExAC,TOPMed,gnomAD
rs370843795	p.Arg345His	missense variant	-	NC_000017.11:g.61404752G>A	ESP,ExAC,TOPMed,gnomAD
rs370843795	p.Arg345Leu	missense variant	-	NC_000017.11:g.61404752G>T	ESP,ExAC,TOPMed,gnomAD
rs1328769835	p.His347Gln	missense variant	-	NC_000017.11:g.61404759C>A	TOPMed
rs1465619424	p.His347Pro	missense variant	-	NC_000017.11:g.61404758A>C	gnomAD
rs1408871032	p.Arg348Gln	missense variant	-	NC_000017.11:g.61404761G>A	TOPMed,gnomAD
rs934306736	p.Arg348Gly	missense variant	-	NC_000017.11:g.61404760C>G	TOPMed,gnomAD
rs943459389	p.Ala349Asp	missense variant	-	NC_000017.11:g.61404764C>A	gnomAD
rs1327292367	p.Arg350Gln	missense variant	-	NC_000017.11:g.61404767G>A	TOPMed,gnomAD
rs569358507	p.Arg350Gly	missense variant	-	NC_000017.11:g.61404766C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1433129297	p.Ala351Thr	missense variant	-	NC_000017.11:g.61404769G>A	TOPMed,gnomAD
rs1200860470	p.Lys354Glu	missense variant	-	NC_000017.11:g.61405210A>G	TOPMed
rs1277037820	p.Ser355Leu	missense variant	-	NC_000017.11:g.61405214C>T	TOPMed,gnomAD
rs1277037820	p.Ser355Ter	stop gained	-	NC_000017.11:g.61405214C>A	TOPMed,gnomAD
rs1333167168	p.Ser355Thr	missense variant	-	NC_000017.11:g.61405213T>A	TOPMed
rs535294444	p.Cys356Arg	missense variant	-	NC_000017.11:g.61405216T>C	gnomAD
rs1006930529	p.Ser360Asn	missense variant	-	NC_000017.11:g.61405229G>A	TOPMed
rs1269676383	p.Asp361Asn	missense variant	-	NC_000017.11:g.61405231G>A	TOPMed,gnomAD
rs1269676383	p.Asp361Tyr	missense variant	-	NC_000017.11:g.61405231G>T	TOPMed,gnomAD
rs1192851196	p.Glu363Asp	missense variant	-	NC_000017.11:g.61405239G>T	gnomAD
rs1422904411	p.Pro364Leu	missense variant	-	NC_000017.11:g.61405241C>T	gnomAD
rs749180743	p.Glu365Lys	missense variant	-	NC_000017.11:g.61405243G>A	ExAC,TOPMed,gnomAD
rs1362107893	p.Glu365Gly	missense variant	-	NC_000017.11:g.61405244A>G	TOPMed,gnomAD
rs749180743	p.Glu365Gln	missense variant	-	NC_000017.11:g.61405243G>C	ExAC,TOPMed,gnomAD
rs1297108502	p.Arg366Gln	missense variant	-	NC_000017.11:g.61405247G>A	gnomAD
rs770945114	p.Ser368Ile	missense variant	-	NC_000017.11:g.61405253G>T	ExAC,gnomAD
rs1273598196	p.Glu369Gln	missense variant	-	NC_000017.11:g.61405255G>C	TOPMed,gnomAD
rs1273598196	p.Glu369Lys	missense variant	-	NC_000017.11:g.61405255G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu369Ter	stop gained	-	NC_000017.11:g.61405255G>T	NCI-TCGA
rs759112967	p.Arg371Pro	missense variant	-	NC_000017.11:g.61405262G>C	ExAC,gnomAD
rs759112967	p.Arg371His	missense variant	-	NC_000017.11:g.61405262G>A	ExAC,gnomAD
rs773715475	p.Arg371Cys	missense variant	-	NC_000017.11:g.61405261C>T	ExAC,TOPMed,gnomAD
rs1162880145	p.Ala372Val	missense variant	-	NC_000017.11:g.61405265C>T	TOPMed
rs767208687	p.Gly373Ala	missense variant	-	NC_000017.11:g.61405268G>C	ExAC,gnomAD
rs1351851521	p.Gly373Arg	missense variant	-	NC_000017.11:g.61405267G>A	gnomAD
rs767208687	p.Gly373Glu	missense variant	-	NC_000017.11:g.61405268G>A	ExAC,gnomAD
rs775291426	p.Ala374Thr	missense variant	-	NC_000017.11:g.61405270G>A	ExAC,gnomAD
rs1490863515	p.Pro375Leu	missense variant	-	NC_000017.11:g.61405274C>T	gnomAD
rs754268053	p.Arg378His	missense variant	-	NC_000017.11:g.61405283G>A	ExAC,gnomAD
rs1177617905	p.Ser379Arg	missense variant	-	NC_000017.11:g.61405287C>A	gnomAD
rs765795326	p.Pro380Arg	missense variant	-	NC_000017.11:g.61405289C>G	ExAC,TOPMed,gnomAD
rs765795326	p.Pro380Gln	missense variant	-	NC_000017.11:g.61405289C>A	ExAC,TOPMed,gnomAD
rs1381926323	p.Pro380Ala	missense variant	-	NC_000017.11:g.61405288C>G	gnomAD
rs765795326	p.Pro380Leu	missense variant	-	NC_000017.11:g.61405289C>T	ExAC,TOPMed,gnomAD
rs750429318	p.Ala381Val	missense variant	-	NC_000017.11:g.61405292C>T	ExAC,TOPMed,gnomAD
rs1385413906	p.Ala381Pro	missense variant	-	NC_000017.11:g.61405291G>C	gnomAD
rs1320972167	p.Asp383Gly	missense variant	-	NC_000017.11:g.61405298A>G	gnomAD
rs1443542556	p.Ser384Arg	missense variant	-	NC_000017.11:g.61405302C>A	TOPMed,gnomAD
rs1349852273	p.Ser384Arg	missense variant	-	NC_000017.11:g.61405300A>C	gnomAD
rs758477912	p.Ala385Thr	missense variant	-	NC_000017.11:g.61405303G>A	ExAC,gnomAD
rs758477912	p.Ala385Ser	missense variant	-	NC_000017.11:g.61405303G>T	ExAC,gnomAD
rs1375148456	p.Ser386Gly	missense variant	-	NC_000017.11:g.61405306A>G	gnomAD
rs1316021986	p.Arg389Cys	missense variant	-	NC_000017.11:g.61405315C>T	gnomAD
rs1358687419	p.Arg389His	missense variant	-	NC_000017.11:g.61405316G>A	gnomAD
rs1358687419	p.Arg389Leu	missense variant	-	NC_000017.11:g.61405316G>T	gnomAD
rs1316021986	p.Arg389Ser	missense variant	-	NC_000017.11:g.61405315C>A	gnomAD
rs1196379865	p.Thr391Ile	missense variant	-	NC_000017.11:g.61405322C>T	TOPMed,gnomAD
rs1196379865	p.Thr391Asn	missense variant	-	NC_000017.11:g.61405322C>A	TOPMed,gnomAD
rs1352333884	p.Pro393His	missense variant	-	NC_000017.11:g.61405328C>A	TOPMed
rs1352333884	p.Pro393Leu	missense variant	-	NC_000017.11:g.61405328C>T	TOPMed
rs1451026995	p.Pro393Ser	missense variant	-	NC_000017.11:g.61405327C>T	TOPMed,gnomAD
rs1239861226	p.Glu394Gly	missense variant	-	NC_000017.11:g.61405331A>G	gnomAD
rs1177730387	p.Ala396Val	missense variant	-	NC_000017.11:g.61405337C>T	gnomAD
rs1456287464	p.Ala396Ser	missense variant	-	NC_000017.11:g.61405336G>T	gnomAD
rs1161004743	p.Arg397Pro	missense variant	-	NC_000017.11:g.61405340G>C	gnomAD
rs1473559483	p.Arg397Gly	missense variant	-	NC_000017.11:g.61405339C>G	gnomAD
rs914362509	p.Arg400Ser	missense variant	-	NC_000017.11:g.61405348C>A	TOPMed,gnomAD
rs914362509	p.Arg400Cys	missense variant	-	NC_000017.11:g.61405348C>T	TOPMed,gnomAD
rs1173468711	p.Arg400His	missense variant	-	NC_000017.11:g.61405349G>A	gnomAD
rs1398672049	p.Ser401Cys	missense variant	-	NC_000017.11:g.61405351A>T	gnomAD
rs140610908	p.Arg404Ser	missense variant	-	NC_000017.11:g.61405362G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1446547578	p.Arg404Gly	missense variant	-	NC_000017.11:g.61405360A>G	gnomAD
rs745310839	p.Lys406Glu	missense variant	-	NC_000017.11:g.61405366A>G	ExAC,gnomAD
rs1340160900	p.Glu407Val	missense variant	-	NC_000017.11:g.61405370A>T	gnomAD
rs1283743763	p.Glu407Lys	missense variant	-	NC_000017.11:g.61405369G>A	gnomAD
rs1220486832	p.Pro408Leu	missense variant	-	NC_000017.11:g.61405373C>T	gnomAD
rs1197824727	p.Ala409Val	missense variant	-	NC_000017.11:g.61405376C>T	gnomAD
rs775203048	p.Ala409Thr	missense variant	-	NC_000017.11:g.61405375G>A	ExAC,gnomAD
rs760370525	p.Glu410Gln	missense variant	-	NC_000017.11:g.61405378G>C	ExAC,gnomAD
rs760370525	p.Glu410Lys	missense variant	-	NC_000017.11:g.61405378G>A	ExAC,gnomAD
rs776810510	p.Ser411Gly	missense variant	-	NC_000017.11:g.61405381A>G	ExAC,TOPMed,gnomAD
rs200287309	p.Gly412Asp	missense variant	-	NC_000017.11:g.61405385G>A	ExAC,TOPMed,gnomAD
rs762268506	p.Gly412Cys	missense variant	-	NC_000017.11:g.61405384G>T	ExAC,gnomAD
rs1475466397	p.Gly413Trp	missense variant	-	NC_000017.11:g.61405387G>T	TOPMed,gnomAD
rs1195162033	p.Asp414Gly	missense variant	-	NC_000017.11:g.61405391A>G	gnomAD
rs918388666	p.Asp414Glu	missense variant	-	NC_000017.11:g.61405392C>G	TOPMed,gnomAD
rs1487669720	p.Gly415Arg	missense variant	-	NC_000017.11:g.61405393G>C	TOPMed
rs750954217	p.Pro416Leu	missense variant	-	NC_000017.11:g.61405397C>T	ExAC,TOPMed,gnomAD
rs1177673569	p.Gly418Ser	missense variant	-	NC_000017.11:g.61405402G>A	TOPMed,gnomAD
rs1404797816	p.Arg420Lys	missense variant	-	NC_000017.11:g.61405409G>A	gnomAD
rs766443447	p.Ser421Asn	missense variant	-	NC_000017.11:g.61405412G>A	ExAC,TOPMed,gnomAD
rs766443447	p.Ser421Ile	missense variant	-	NC_000017.11:g.61405412G>T	ExAC,TOPMed,gnomAD
rs1327195802	p.Glu425Gly	missense variant	-	NC_000017.11:g.61405424A>G	gnomAD
rs1401962009	p.Arg426Ser	missense variant	-	NC_000017.11:g.61405426C>A	gnomAD
rs1338406966	p.Ala427Gly	missense variant	-	NC_000017.11:g.61405430C>G	TOPMed,gnomAD
rs1338406966	p.Ala427Val	missense variant	-	NC_000017.11:g.61405430C>T	TOPMed,gnomAD
rs1057986	p.Ala427Thr	missense variant	-	NC_000017.11:g.61405429G>A	TOPMed
rs1057986	p.Ala427Pro	missense variant	-	NC_000017.11:g.61405429G>C	TOPMed
rs755172964	p.Glu428Gly	missense variant	-	NC_000017.11:g.61405433A>G	ExAC,gnomAD
rs568419315	p.Ala429Ser	missense variant	-	NC_000017.11:g.61405435G>T	1000Genomes,gnomAD
COSM4913106	p.Arg430Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61405439G>A	NCI-TCGA Cosmic
rs1198462287	p.Lys432Arg	missense variant	-	NC_000017.11:g.61405445A>G	TOPMed,gnomAD
rs1388447996	p.Asp433Glu	missense variant	-	NC_000017.11:g.61405449C>G	gnomAD
rs1277509249	p.Glu434Asp	missense variant	-	NC_000017.11:g.61405452G>C	gnomAD
rs1218225060	p.Gly435Glu	missense variant	-	NC_000017.11:g.61405454G>A	TOPMed,gnomAD
rs781502221	p.Gly435Arg	missense variant	-	NC_000017.11:g.61405453G>A	ExAC,gnomAD
rs753540297	p.Arg436Leu	missense variant	-	NC_000017.11:g.61405457G>T	ExAC,TOPMed
rs1260389628	p.Ala439Thr	missense variant	-	NC_000017.11:g.61405465G>A	gnomAD
NCI-TCGA novel	p.Ala439Val	missense variant	-	NC_000017.11:g.61405466C>T	NCI-TCGA
NCI-TCGA novel	p.Ala440Val	missense variant	-	NC_000017.11:g.61405469C>T	NCI-TCGA
rs1379822721	p.Glu441Lys	missense variant	-	NC_000017.11:g.61405471G>A	TOPMed,gnomAD
rs371850274	p.Gly442Asp	missense variant	-	NC_000017.11:g.61405475G>A	ESP,ExAC,TOPMed,gnomAD
rs1477316009	p.Glu444Lys	missense variant	-	NC_000017.11:g.61405480G>A	TOPMed
rs772174118	p.Gln445Arg	missense variant	-	NC_000017.11:g.61405484A>G	ExAC
rs779687743	p.Gly446Asp	missense variant	-	NC_000017.11:g.61405487G>A	ExAC,gnomAD
rs1386004099	p.Gly446Ser	missense variant	-	NC_000017.11:g.61405486G>A	gnomAD
rs776350683	p.Ala448Glu	missense variant	-	NC_000017.11:g.61405493C>A	ExAC,gnomAD
rs776350683	p.Ala448Val	missense variant	-	NC_000017.11:g.61405493C>T	ExAC,gnomAD
rs776350683	p.Ala448Gly	missense variant	-	NC_000017.11:g.61405493C>G	ExAC,gnomAD
rs768152749	p.Ala448Thr	missense variant	-	NC_000017.11:g.61405492G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu450Met	missense variant	-	NC_000017.11:g.61405498C>A	NCI-TCGA
rs1230845044	p.Val451Met	missense variant	-	NC_000017.11:g.61405501G>A	gnomAD
rs952398664	p.Ala457Thr	missense variant	-	NC_000017.11:g.61405519G>A	TOPMed,gnomAD
rs1241863002	p.Ala457Val	missense variant	-	NC_000017.11:g.61405520C>T	TOPMed,gnomAD
rs762026215	p.Ser458Phe	missense variant	-	NC_000017.11:g.61405523C>T	ExAC,gnomAD
rs1249443087	p.Pro459Leu	missense variant	-	NC_000017.11:g.61405526C>T	TOPMed
rs770182659	p.Pro459Ala	missense variant	-	NC_000017.11:g.61405525C>G	ExAC,TOPMed,gnomAD
rs770182659	p.Pro459Thr	missense variant	-	NC_000017.11:g.61405525C>A	ExAC,TOPMed,gnomAD
rs763421585	p.Leu460Arg	missense variant	-	NC_000017.11:g.61405529T>G	ExAC,gnomAD
rs763421585	p.Leu460Pro	missense variant	-	NC_000017.11:g.61405529T>C	ExAC,gnomAD
rs1450366449	p.Gly461Ala	missense variant	-	NC_000017.11:g.61405532G>C	gnomAD
rs1450366449	p.Gly461Asp	missense variant	-	NC_000017.11:g.61405532G>A	gnomAD
NCI-TCGA novel	p.Ala462Thr	missense variant	-	NC_000017.11:g.61405534G>A	NCI-TCGA
rs1381303968	p.Gly463Arg	missense variant	-	NC_000017.11:g.61405537G>C	TOPMed,gnomAD
rs1381303968	p.Gly463Arg	missense variant	-	NC_000017.11:g.61405537G>A	TOPMed,gnomAD
rs1441851413	p.His464Pro	missense variant	-	NC_000017.11:g.61405541A>C	gnomAD
rs1412936148	p.His464Asn	missense variant	-	NC_000017.11:g.61405540C>A	TOPMed
rs1425412705	p.Pro466Leu	missense variant	-	NC_000017.11:g.61405547C>T	gnomAD
rs866915098	p.Gly467Asp	missense variant	-	NC_000017.11:g.61405550G>A	-
rs767573539	p.Gly467Cys	missense variant	-	NC_000017.11:g.61405549G>T	ExAC,TOPMed,gnomAD
rs767573539	p.Gly467Ser	missense variant	-	NC_000017.11:g.61405549G>A	ExAC,TOPMed,gnomAD
rs1335432124	p.Leu468Met	missense variant	-	NC_000017.11:g.61405552C>A	TOPMed
rs1322724409	p.Leu468Pro	missense variant	-	NC_000017.11:g.61405553T>C	TOPMed,gnomAD
COSM706582	p.Ala469Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61405556C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala469Thr	missense variant	-	NC_000017.11:g.61405555G>A	NCI-TCGA
rs1377366453	p.Ser471Pro	missense variant	-	NC_000017.11:g.61405561T>C	gnomAD
rs144548309	p.Ser471Cys	missense variant	-	NC_000017.11:g.61405562C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1306662106	p.His473Arg	missense variant	-	NC_000017.11:g.61405568A>G	gnomAD
rs1352475758	p.His475Pro	missense variant	-	NC_000017.11:g.61405574A>C	gnomAD
rs1266677991	p.Gly476Arg	missense variant	-	NC_000017.11:g.61405576G>A	gnomAD
rs1239256156	p.Pro482Ser	missense variant	-	NC_000017.11:g.61405594C>T	gnomAD
rs1172382800	p.Ala485Thr	missense variant	-	NC_000017.11:g.61405603G>A	TOPMed
rs201229574	p.Gly486Ala	missense variant	-	NC_000017.11:g.61405607G>C	ExAC,gnomAD
rs201229574	p.Gly486Asp	missense variant	-	NC_000017.11:g.61405607G>A	ExAC,gnomAD
rs1177112706	p.Gly486Ser	missense variant	-	NC_000017.11:g.61405606G>A	gnomAD
NCI-TCGA novel	p.Leu491Pro	missense variant	-	NC_000017.11:g.61405622T>C	NCI-TCGA
rs1400883677	p.Thr497Ile	missense variant	-	NC_000017.11:g.61405640C>T	gnomAD
rs375741598	p.Met498Val	missense variant	-	NC_000017.11:g.61405642A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780625185	p.Gly499Asp	missense variant	-	NC_000017.11:g.61405646G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro500Thr	missense variant	-	NC_000017.11:g.61405648C>A	NCI-TCGA
rs1162684137	p.Gly501Val	missense variant	-	NC_000017.11:g.61405652G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala502Thr	missense variant	-	NC_000017.11:g.61405654G>A	NCI-TCGA
rs988878641	p.Ser504Cys	missense variant	-	NC_000017.11:g.61405661C>G	TOPMed
NCI-TCGA novel	p.Ala505Thr	missense variant	-	NC_000017.11:g.61405663G>A	NCI-TCGA
rs773546502	p.Met506Ile	missense variant	-	NC_000017.11:g.61405668G>T	ExAC,gnomAD
rs1243368065	p.Met506Thr	missense variant	-	NC_000017.11:g.61405667T>C	gnomAD
rs568617957	p.Met506Val	missense variant	-	NC_000017.11:g.61405666A>G	1000Genomes,gnomAD
rs1284897259	p.Gly509Asp	missense variant	-	NC_000017.11:g.61405676G>A	TOPMed
rs1011114587	p.His510Gln	missense variant	-	NC_000017.11:g.61405680C>G	TOPMed,gnomAD
rs771391654	p.Ala513Gly	missense variant	-	NC_000017.11:g.61405688C>G	ExAC,gnomAD
rs1184100899	p.Ala513Thr	missense variant	-	NC_000017.11:g.61405687G>A	TOPMed
rs1447900446	p.Ser514Trp	missense variant	-	NC_000017.11:g.61405691C>G	TOPMed
rs537498833	p.Gly517Ala	missense variant	-	NC_000017.11:g.61405700G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs537498833	p.Gly517Asp	missense variant	-	NC_000017.11:g.61405700G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs947384542	p.Gly518Ser	missense variant	-	NC_000017.11:g.61405702G>A	gnomAD
rs1254269281	p.Gly521Ser	missense variant	-	NC_000017.11:g.61405711G>A	gnomAD
NCI-TCGA novel	p.Gly522Arg	missense variant	-	NC_000017.11:g.61405714G>A	NCI-TCGA
rs1163279475	p.Gly523Asp	missense variant	-	NC_000017.11:g.61405718G>A	TOPMed
rs1467101516	p.Gly527Val	missense variant	-	NC_000017.11:g.61405730G>T	gnomAD
rs1043451901	p.Gly527Arg	missense variant	-	NC_000017.11:g.61405729G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala530Thr	missense variant	-	NC_000017.11:g.61405738G>A	NCI-TCGA
rs752757013	p.Gly531Glu	missense variant	-	NC_000017.11:g.61405742G>A	ExAC,TOPMed,gnomAD
rs1466303780	p.Asp533His	missense variant	-	NC_000017.11:g.61405747G>C	TOPMed,gnomAD
rs1466303780	p.Asp533Asn	missense variant	-	NC_000017.11:g.61405747G>A	TOPMed,gnomAD
rs968525927	p.Gly535Asp	missense variant	-	NC_000017.11:g.61405754G>A	TOPMed
rs760926920	p.Gly536Arg	missense variant	-	NC_000017.11:g.61405756G>C	ExAC,TOPMed,gnomAD
rs1033976103	p.Ala540Thr	missense variant	-	NC_000017.11:g.61405768G>A	TOPMed
rs1436231841	p.Ala541Ser	missense variant	-	NC_000017.11:g.61405771G>T	TOPMed
rs1323810054	p.Ala543Val	missense variant	-	NC_000017.11:g.61405778C>T	TOPMed
rs1413672914	p.Ala543Thr	missense variant	-	NC_000017.11:g.61405777G>A	TOPMed,gnomAD
rs1413672914	p.Ala543Ser	missense variant	-	NC_000017.11:g.61405777G>T	TOPMed,gnomAD
rs758271503	p.Leu554Phe	missense variant	-	NC_000017.11:g.61405810C>T	ExAC,TOPMed,gnomAD
rs1217331636	p.His557Asn	missense variant	-	NC_000017.11:g.61405819C>A	gnomAD
rs751530121	p.Leu559Pro	missense variant	-	NC_000017.11:g.61405826T>C	ExAC,gnomAD
rs766360652	p.Leu559Val	missense variant	-	NC_000017.11:g.61405825C>G	ExAC,gnomAD
rs1157951417	p.Gln562Lys	missense variant	-	NC_000017.11:g.61405834C>A	TOPMed
rs144017258	p.Pro565Ala	missense variant	-	NC_000017.11:g.61408060C>G	ESP,ExAC,gnomAD
rs1311891914	p.Met566Val	missense variant	-	NC_000017.11:g.61408063A>G	TOPMed,gnomAD
rs1288349046	p.Met566Ile	missense variant	-	NC_000017.11:g.61408065G>T	gnomAD
rs766245891	p.Met566Thr	missense variant	-	NC_000017.11:g.61408064T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met566Arg	missense variant	-	NC_000017.11:g.61408064T>G	NCI-TCGA
rs1487359387	p.Pro567Leu	missense variant	-	NC_000017.11:g.61408067C>T	gnomAD
rs1215930410	p.Thr568Ser	missense variant	-	NC_000017.11:g.61408070C>G	gnomAD
rs751465106	p.Phe569Ser	missense variant	-	NC_000017.11:g.61408073T>C	ExAC,TOPMed,gnomAD
rs767367190	p.Gly570Arg	missense variant	-	NC_000017.11:g.61408075G>A	ExAC,gnomAD
rs149083072	p.Gly571Ala	missense variant	-	NC_000017.11:g.61408079G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly571Asp	missense variant	-	NC_000017.11:g.61408079G>A	NCI-TCGA
rs777352687	p.Pro574Ser	missense variant	-	NC_000017.11:g.61408087C>T	ExAC,TOPMed,gnomAD
rs372888108	p.Pro576Thr	missense variant	-	NC_000017.11:g.61408093C>A	ESP,ExAC,TOPMed,gnomAD
rs372888108	p.Pro576Ser	missense variant	-	NC_000017.11:g.61408093C>T	ESP,ExAC,TOPMed,gnomAD
rs1460550911	p.Thr578Ser	missense variant	-	NC_000017.11:g.61408100C>G	TOPMed
rs142190838	p.Tyr579His	missense variant	-	NC_000017.11:g.61408102T>C	ESP,ExAC,TOPMed,gnomAD
rs772565749	p.Met580Lys	missense variant	-	NC_000017.11:g.61408106T>A	ExAC,gnomAD
rs746235173	p.Met580Val	missense variant	-	NC_000017.11:g.61408105A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala583Ser	missense variant	-	NC_000017.11:g.61408114G>T	NCI-TCGA
rs768834035	p.Ala584Val	missense variant	-	NC_000017.11:g.61408118C>T	ExAC,gnomAD
rs973646457	p.Ala584Thr	missense variant	-	NC_000017.11:g.61408117G>A	gnomAD
rs762120940	p.Ala585Thr	missense variant	-	NC_000017.11:g.61408120G>A	ExAC,gnomAD
rs1467885619	p.Ala587Gly	missense variant	-	NC_000017.11:g.61408127C>G	gnomAD
rs774135961	p.Ala587Thr	missense variant	-	NC_000017.11:g.61408126G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala587Val	missense variant	-	NC_000017.11:g.61408127C>T	NCI-TCGA
rs1049878712	p.Ser588Leu	missense variant	-	NC_000017.11:g.61408130C>T	TOPMed,gnomAD
rs760711917	p.Ala592Thr	missense variant	-	NC_000017.11:g.61408141G>A	ExAC,gnomAD
rs763593217	p.Thr593Asn	missense variant	-	NC_000017.11:g.61408145C>A	ExAC,TOPMed,gnomAD
rs1304865429	p.Thr593Pro	missense variant	-	NC_000017.11:g.61408144A>C	TOPMed
rs756848247	p.Ser594Asn	missense variant	-	NC_000017.11:g.61408148G>A	ExAC,gnomAD
rs753406923	p.Ser594Gly	missense variant	-	NC_000017.11:g.61408147A>G	ExAC,TOPMed,gnomAD
rs750762087	p.Ala596Val	missense variant	-	NC_000017.11:g.61408154C>T	ExAC
rs758713361	p.Ala597Asp	missense variant	-	NC_000017.11:g.61408157C>A	ExAC,gnomAD
rs758713361	p.Ala597Val	missense variant	-	NC_000017.11:g.61408157C>T	ExAC,gnomAD
rs780517343	p.Ala598Gly	missense variant	-	NC_000017.11:g.61408160C>G	ExAC,gnomAD
rs1465190537	p.Ala598Thr	missense variant	-	NC_000017.11:g.61408159G>A	gnomAD
rs780517343	p.Ala598Val	missense variant	-	NC_000017.11:g.61408160C>T	ExAC,gnomAD
rs781407433	p.Ala599Val	missense variant	-	NC_000017.11:g.61408163C>T	ExAC,TOPMed,gnomAD
rs769353072	p.Ala599Thr	missense variant	-	NC_000017.11:g.61408162G>A	ExAC,gnomAD
rs556896861	p.Ala600Thr	missense variant	-	NC_000017.11:g.61408165G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771737837	p.Ala601Thr	missense variant	-	NC_000017.11:g.61408168G>A	ExAC
rs764036287	p.Ala603Thr	missense variant	-	NC_000017.11:g.61408174G>A	ExAC,TOPMed,gnomAD
rs764036287	p.Ala603Ser	missense variant	-	NC_000017.11:g.61408174G>T	ExAC,TOPMed,gnomAD
rs1435787888	p.Gly604Asp	missense variant	-	NC_000017.11:g.61408178G>A	gnomAD
rs147014278	p.Gly604Ser	missense variant	-	NC_000017.11:g.61408177G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147014278	p.Gly604Cys	missense variant	-	NC_000017.11:g.61408177G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147014278	p.Gly604Arg	missense variant	-	NC_000017.11:g.61408177G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1208240880	p.Leu606Pro	missense variant	-	NC_000017.11:g.61408184T>C	gnomAD
NCI-TCGA novel	p.Leu606Val	missense variant	-	NC_000017.11:g.61408183C>G	NCI-TCGA
rs1315085057	p.Ser607Pro	missense variant	-	NC_000017.11:g.61408186T>C	TOPMed
COSM3520400	p.Ser607Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61408187C>T	NCI-TCGA Cosmic
rs764896880	p.Arg608Trp	missense variant	-	NC_000017.11:g.61408189C>T	ExAC,gnomAD
rs1473508839	p.Arg608Gln	missense variant	-	NC_000017.11:g.61408190G>A	gnomAD
rs1298755634	p.Ser609Arg	missense variant	-	NC_000017.11:g.61408192A>C	TOPMed
rs1057987	p.Ser609Arg	missense variant	-	NC_000017.11:g.61408194C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780277539	p.Pro610Arg	missense variant	-	NC_000017.11:g.61408196C>G	ExAC,gnomAD
COSM3520402	p.Pro610Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61408195C>T	NCI-TCGA Cosmic
rs755482630	p.Phe611Ser	missense variant	-	NC_000017.11:g.61408199T>C	ExAC,gnomAD
rs1163586259	p.Ser614Arg	missense variant	-	NC_000017.11:g.61408209T>G	TOPMed
rs748195981	p.Arg616Trp	missense variant	-	NC_000017.11:g.61408213C>T	ExAC,gnomAD
rs191930922	p.Arg616Gln	missense variant	-	NC_000017.11:g.61408214G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3520403	p.Pro617Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61408217C>T	NCI-TCGA Cosmic
rs777954444	p.Arg618Gln	missense variant	-	NC_000017.11:g.61408220G>A	ExAC,gnomAD
rs780394333	p.Leu619Val	missense variant	-	NC_000017.11:g.61408222C>G	TOPMed,gnomAD
rs775093972	p.Arg620His	missense variant	-	NC_000017.11:g.61408226G>A	ExAC,gnomAD
rs373091690	p.Arg620Cys	missense variant	-	NC_000017.11:g.61408225C>T	ESP,ExAC,gnomAD
rs1279945164	p.Ser622Arg	missense variant	-	NC_000017.11:g.61408233C>A	gnomAD
rs760471565	p.Gln625Arg	missense variant	-	NC_000017.11:g.61408241A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln625His	missense variant	-	NC_000017.11:g.61408242G>T	NCI-TCGA
rs768543958	p.Ile626Asn	missense variant	-	NC_000017.11:g.61408244T>A	ExAC,gnomAD
rs1278938634	p.Pro627Ala	missense variant	-	NC_000017.11:g.61408246C>G	gnomAD
rs776574836	p.Pro627Leu	missense variant	-	NC_000017.11:g.61408247C>T	ExAC,gnomAD
rs776574836	p.Pro627Arg	missense variant	-	NC_000017.11:g.61408247C>G	ExAC,gnomAD
rs764623072	p.Val628Asp	missense variant	-	NC_000017.11:g.61408250T>A	ExAC,TOPMed,gnomAD
rs1477822012	p.Thr629Ala	missense variant	-	NC_000017.11:g.61408252A>G	gnomAD
rs147052385	p.Pro631Leu	missense variant	-	NC_000017.11:g.61408259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766068207	p.Ser633Gly	missense variant	-	NC_000017.11:g.61408264A>G	ExAC,TOPMed,gnomAD
rs1427588954	p.Ser633Asn	missense variant	-	NC_000017.11:g.61408265G>A	gnomAD
rs751904464	p.Leu636Arg	missense variant	-	NC_000017.11:g.61408274T>G	ExAC,gnomAD
rs755423150	p.Thr639Ala	missense variant	-	NC_000017.11:g.61408282A>G	ExAC,gnomAD
rs753230872	p.Gly640Arg	missense variant	-	NC_000017.11:g.61408285G>A	ExAC,TOPMed,gnomAD
rs756680844	p.Ala642Val	missense variant	-	NC_000017.11:g.61408292C>T	ExAC,TOPMed,gnomAD
rs749403783	p.Gly645Cys	missense variant	-	NC_000017.11:g.61408300G>T	ExAC,gnomAD
rs377687643	p.Ala649Thr	missense variant	-	NC_000017.11:g.61408312G>A	ESP,ExAC,TOPMed,gnomAD
rs1231627362	p.Gly650Ser	missense variant	-	NC_000017.11:g.61408315G>A	gnomAD
rs1279090119	p.Asn652Asp	missense variant	-	NC_000017.11:g.61408321A>G	gnomAD
rs779229096	p.Ser653Arg	missense variant	-	NC_000017.11:g.61408326C>G	ExAC,gnomAD
rs149614309	p.Arg654Gln	missense variant	-	NC_000017.11:g.61408328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746759936	p.Arg654Trp	missense variant	-	NC_000017.11:g.61408327C>T	ExAC,TOPMed,gnomAD
rs746759936	p.Arg654Gly	missense variant	-	NC_000017.11:g.61408327C>G	ExAC,TOPMed,gnomAD
rs769827285	p.Glu655Lys	missense variant	-	NC_000017.11:g.61408330G>A	ExAC,gnomAD
rs772538088	p.Pro656Ser	missense variant	-	NC_000017.11:g.61408333C>T	ExAC,gnomAD
rs986503687	p.Pro656Leu	missense variant	-	NC_000017.11:g.61408334C>T	TOPMed,gnomAD
rs762527982	p.Ser657Arg	missense variant	-	NC_000017.11:g.61408338C>A	ExAC,TOPMed,gnomAD
rs762527982	p.Ser657Arg	missense variant	-	NC_000017.11:g.61408338C>G	ExAC,TOPMed,gnomAD
rs765906139	p.Pro658Ala	missense variant	-	NC_000017.11:g.61408339C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu659Val	missense variant	-	NC_000017.11:g.61408342C>G	NCI-TCGA
rs924184903	p.Pro660Leu	missense variant	-	NC_000017.11:g.61408346C>T	TOPMed
NCI-TCGA novel	p.Pro660Ser	missense variant	-	NC_000017.11:g.61408345C>T	NCI-TCGA
rs759307454	p.Glu661Gln	missense variant	-	NC_000017.11:g.61408348G>C	ExAC,TOPMed,gnomAD
rs759307454	p.Glu661Lys	missense variant	-	NC_000017.11:g.61408348G>A	ExAC,TOPMed,gnomAD
rs767959344	p.Ala663Val	missense variant	-	NC_000017.11:g.61408355C>T	ExAC,gnomAD
rs753175622	p.Leu664Ile	missense variant	-	NC_000017.11:g.61408357C>A	ExAC,TOPMed,gnomAD
rs764671010	p.Arg665His	missense variant	-	NC_000017.11:g.61408361G>A	ExAC,gnomAD
rs34493156	p.Arg665Cys	missense variant	-	NC_000017.11:g.61408360C>T	ExAC,TOPMed,gnomAD
rs1438378054	p.Lys666Glu	missense variant	-	NC_000017.11:g.61408363A>G	gnomAD
rs753824335	p.Val667Ile	missense variant	-	NC_000017.11:g.61408366G>A	ExAC,TOPMed,gnomAD
rs779016245	p.Ala669Val	missense variant	-	NC_000017.11:g.61408373C>T	ExAC,TOPMed,gnomAD
rs367963765	p.Ala669Ser	missense variant	-	NC_000017.11:g.61408372G>T	ExAC,gnomAD
rs746060657	p.Ser671Cys	missense variant	-	NC_000017.11:g.61408379C>G	ExAC,gnomAD
rs113424512	p.Arg672Cys	missense variant	-	NC_000017.11:g.61408381C>T	ESP,ExAC,TOPMed,gnomAD
rs780953070	p.Arg672His	missense variant	-	NC_000017.11:g.61408382G>A	ExAC,TOPMed,gnomAD
rs948234669	p.Gly673Ser	missense variant	-	NC_000017.11:g.61408384G>A	TOPMed,gnomAD
rs1441759858	p.Ala674Val	missense variant	-	NC_000017.11:g.61408388C>T	gnomAD
rs1179825768	p.Leu675Pro	missense variant	-	NC_000017.11:g.61408391T>C	gnomAD
rs1458420643	p.Ser676Leu	missense variant	-	NC_000017.11:g.61408394C>T	gnomAD
rs773230802	p.Pro677Ser	missense variant	-	NC_000017.11:g.61408396C>T	ExAC,TOPMed,gnomAD
rs61751978	p.Pro677Arg	missense variant	-	NC_000017.11:g.61408397C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61751978	p.Pro677Leu	missense variant	-	NC_000017.11:g.61408397C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1324945636	p.Ser678Thr	missense variant	-	NC_000017.11:g.61408400G>C	gnomAD
rs1256188257	p.Ser680Trp	missense variant	-	NC_000017.11:g.61408406C>G	TOPMed,gnomAD
rs1256188257	p.Ser680Leu	missense variant	-	NC_000017.11:g.61408406C>T	TOPMed,gnomAD
rs1448528595	p.Ala681Val	missense variant	-	NC_000017.11:g.61408409C>T	gnomAD
rs1206505563	p.Glu683Ter	stop gained	-	NC_000017.11:g.61408414G>T	TOPMed,gnomAD
rs1304331917	p.Ala684Glu	missense variant	-	NC_000017.11:g.61408418C>A	TOPMed,gnomAD
rs1304331917	p.Ala684Val	missense variant	-	NC_000017.11:g.61408418C>T	TOPMed,gnomAD
rs1334676220	p.Ala685Val	missense variant	-	NC_000017.11:g.61408421C>T	gnomAD
rs1244821600	p.Asn686Ser	missense variant	-	NC_000017.11:g.61408424A>G	gnomAD
rs528883638	p.Asn686Lys	missense variant	-	NC_000017.11:g.61408425T>A	1000Genomes,ExAC,gnomAD
rs1259099213	p.Ser690Asn	missense variant	-	NC_000017.11:g.61408436G>A	gnomAD
rs1194305286	p.Val695Met	missense variant	-	NC_000017.11:g.61408450G>A	TOPMed,gnomAD
rs771904517	p.Ser696Asn	missense variant	-	NC_000017.11:g.61408454G>A	ExAC
rs1379296399	p.Gln701Arg	missense variant	-	NC_000017.11:g.61408469A>G	TOPMed
rs899163658	p.Arg702Gln	missense variant	-	NC_000017.11:g.61408472G>A	TOPMed,gnomAD
rs1014995360	p.Arg702Gly	missense variant	-	NC_000017.11:g.61408471C>G	TOPMed,gnomAD
rs1419996654	p.Ala703Thr	missense variant	-	NC_000017.11:g.61408474G>A	gnomAD
rs1427020569	p.Ser705Ala	missense variant	-	NC_000017.11:g.61408480T>G	gnomAD
rs775935102	p.Arg708Gln	missense variant	-	NC_000017.11:g.61408490G>A	ExAC,gnomAD
rs1164038671	p.Arg708Trp	missense variant	-	NC_000017.11:g.61408489C>T	TOPMed,gnomAD
rs1296116503	p.Ser710Leu	missense variant	-	NC_000017.11:g.61408496C>T	TOPMed,gnomAD
rs761134753	p.Lys712Asn	missense variant	-	NC_000017.11:g.61408503G>C	ExAC,TOPMed,gnomAD
rs890619577	p.Ter713Arg	stop lost	-	NC_000017.11:g.61408504T>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0014116	Endocardial Cushion Defects	group	BEFREE
C0022660	Kidney Failure, Acute	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0032915	Preexcitation Syndrome	disease	BEFREE
C0035436	Rheumatic Fever	disease	BEFREE
C0041207	Truncus Arteriosus, Persistent	disease	BEFREE
C0152101	Hypoplastic Left Heart Syndrome	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0201976	Creatinine measurement, serum (procedure)	phenotype	GWASCAT;GWASDB
C0206686	Adrenocortical carcinoma	disease	BEFREE
C0233514	Abnormal behavior	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0264490	Acute respiratory failure	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0428886	Mean blood pressure	phenotype	GWASCAT
C0559106	Ventricular preexcitation	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C1368683	Epithelioma	disease	BEFREE
C1389018	Atrioventricular Septal Defect	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001102	RNA polymerase II activating transcription factor binding	IBA
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	DNA binding	TAS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001708	cell fate specification	IBA
GO:0001947	heart looping	ISS
GO:0001947	heart looping	IBA
GO:0003148	outflow tract septum morphogenesis	ISS
GO:0003151	outflow tract morphogenesis	ISS
GO:0003203	endocardial cushion morphogenesis	ISS
GO:0003205	cardiac chamber development	IBA
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS
GO:0007219	Notch signaling pathway	IEA
GO:0007417	central nervous system development	IBA
GO:0007521	muscle cell fate determination	ISS
GO:0007569	cell aging	IDA
GO:0008016	regulation of heart contraction	ISS
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008284	positive regulation of cell population proliferation	IBA
GO:0035050	embryonic heart tube development	ISS
GO:0035909	aorta morphogenesis	ISS
GO:0036302	atrioventricular canal development	ISS
GO:0042733	embryonic digit morphogenesis	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0048596	embryonic camera-type eye morphogenesis	ISS
GO:0048738	cardiac muscle tissue development	ISS
GO:0060021	roof of mouth development	IEA
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS
GO:0060465	pharynx development	ISS
GO:0060560	developmental growth involved in morphogenesis	IEA
GO:0060596	mammary placode formation	IEA
GO:0090398	cellular senescence	IDA
GO:1901208	negative regulation of heart looping	ISS
GO:1901211	negative regulation of cardiac chamber formation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005667	transcription factor complex	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of TBX2 mRNA	27840820
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of TBX2 mRNA	22485181
C496492	abrine	abrine results in increased expression of TBX2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of TBX2 mRNA	17562736
C100057	ametryne	ametryne results in decreased expression of TBX2 protein	29427468
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of TBX2 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of TBX2 gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TBX2 mRNA	26238291
D001564	Benzo(a)pyrene	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of TBX2 mRNA]	22228805
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TBX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of TBX2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of TBX2 mRNA	25594700
C006780	bisphenol A	bisphenol A results in increased expression of TBX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of TBX2 mRNA	25181051
C006780	bisphenol A	bisphenol A affects the methylation of TBX2 promoter	27415467
C006780	bisphenol A	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of TBX2 promoter	23359474
C006780	bisphenol A	bisphenol A results in increased expression of TBX2 mRNA	30816183
C000611646	bisphenol F	bisphenol F results in increased expression of TBX2 mRNA	30951980
C027561	butylbenzyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C584509	C646 compound	C646 compound results in decreased expression of TBX2 mRNA	26191083
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of TBX2 gene	20938992
C480342	clothianidin	clothianidin results in increased expression of TBX2 mRNA	29044138
D003300	Copper	Copper results in increased expression of TBX2 mRNA	30556269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of TBX2 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased methylation of TBX2 promoter	27989131
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of TBX2 mRNA	23914054
D003993	Dibutyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of TBX2 promoter	23359474
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of TBX2 mRNA	21266533
D003993	Dibutyl Phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
D004026	Dieldrin	Dieldrin results in decreased expression of TBX2 mRNA	28385952
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of TBX2 mRNA	31163220
D004051	Diethylhexyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of TBX2 promoter	23359474
D004051	Diethylhexyl Phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C007379	diethyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C025605	diisobutyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
C012125	diisononyl phthalate	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate co-treated with diisononyl phthalate co-treated with diisobutyl phthalate co-treated with butylbenzyl phthalate] results in decreased expression of TBX2 mRNA	31199487
D004237	Diuron	Diuron results in increased expression of TBX2 mRNA	21551480; 25152437;
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of TBX2 mRNA	29803840
D004958	Estradiol	Estradiol results in increased expression of TBX2 mRNA	19484750
D017313	Fenretinide	Fenretinide results in increased expression of TBX2 mRNA	28973697
D005485	Flutamide	Flutamide results in decreased expression of TBX2 mRNA	21735453
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of TBX2 gene	20938992
C069837	fullerene C60	fullerene C60 results in increased expression of TBX2 mRNA	19167457
D005947	Glucose	Glucose results in increased expression of TBX2 mRNA	21818840
C492448	ICG 001	ICG 001 results in decreased expression of TBX2 mRNA	26191083
C544151	jinfukang	jinfukang results in decreased expression of TBX2 mRNA	27392435
C017461	lead nitrate	lead nitrate affects the reaction [TBX2 affects the expression of MT1 mRNA]	11891201
C017461	lead nitrate	lead nitrate affects the reaction [TBX2 affects the expression of MT2 mRNA]	11891201
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of TBX2 mRNA	17506889
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of TBX2 gene	20938992
C028007	nickel monoxide	nickel monoxide results in decreased expression of TBX2 mRNA	27464988
C028007	nickel monoxide	nickel monoxide results in decreased expression of TBX2 protein	27464988
C007350	nitrofen	nitrofen results in decreased expression of TBX2 mRNA	27833996
C007350	nitrofen	nitrofen results in decreased expression of TBX2 protein	27833996
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of TBX2 mRNA	30529165
D010705	Phosgene	Phosgene affects the expression of TBX2 mRNA	16300373
D010938	Plant Oils	Plant Oils results in increased expression of TBX2 mRNA	23370395
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in increased expression of TBX2 mRNA	16202921
C009166	retinol acetate	retinol acetate results in increased expression of TBX2 mRNA	16772331
D012822	Silicon Dioxide	Silicon Dioxide analog affects the expression of TBX2 mRNA	23806026
D000077210	Sunitinib	Sunitinib results in decreased expression of TBX2 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in increased expression of TBX2 mRNA	31299295
C087114	tebuconazole	tebuconazole results in decreased expression of TBX2 mRNA	30458266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TBX2 mRNA	24058054
D014212	Tretinoin	Tretinoin results in increased expression of TBX2 mRNA	21934132; 23724009;
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of TBX2 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of TBX2 mRNA	30510588
D014520	Urethane	Urethane results in increased expression of TBX2 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of TBX2 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased methylation of TBX2 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of TBX2 mRNA	24896083
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of TBX2 mRNA	26682919
D024483	Vitamin K 3	Vitamin K 3 affects the expression of TBX2 mRNA	20044591
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TBX2 mRNA	27188386
D019287	Zinc Sulfate	Zinc Sulfate results in increased expression of TBX2 mRNA	17506889

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR008967	p53-like_TF_DNA-bd
IPR036960	T-box_sf
IPR022582	TBX
IPR002070	TF_Brachyury
IPR001699	TF_T-box
IPR018186	TF_T-box_CS

PROSITE

PROSITE ID	PROSITE Term
PS01283	TBOX_1
PS01264	TBOX_2
PS50252	TBOX_3

Pfam

Pfam ID	Pfam Term
PF00907	T-box
PF12598	TBX

Gene: TBX2

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

There is no related protein structure for this gene.

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