CleftGeneDB-Search

Gene: ACVR1

Basic information

Tag	Content
Uniprot ID	Q04771
Entrez ID	90
Genbank protein ID	CAA80256.1; AAA36614.1; AAH33867.1;
Genbank nucleotide ID	NM_001347666.1; XM_006712825.3; XM_011512108.2; NM_001347665.1; NM_001347664.1; NM_001105.4; NM_001111067.2; NM_001347663.1; NM_001347667.1;
Ensembl protein ID	ENSP00000500109; ENSP00000400767; ENSP00000405004; ENSP00000263640; ENSP00000387127; ENSP00000387273; ENSP00000440091; ENSP00000500605;
Ensembl nucleotide ID	ENSG00000115170
Gene name	Activin receptor type-1
Gene symbol	ACVR1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).
Sequence	MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN 60 DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF 120 HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL 180 ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR 240 DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL 300 DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM 360 HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS 420 NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ 480 NPSARLTALR IKKTLTKIDN SLDKLKTDC 509

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
3H9R
3MTF
3OOM
3Q4U
4BGG
4C02
4DYM
5OXG
5OY6
6ACR
6EIX
6GI6
6GIN
6GIP
6I1S
6SRH
6SZM
6T6D
6T8N
6TN8
3MTF
6I1S

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ACVR1	338068	A2VDM5		Bos taurus	Prediction	More>>
1:1 ortholog	ACVR1		E2RKJ3		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ACVR1		A0A452FPW1		Capra hircus	Prediction	More>>
1:1 ortholog	ACVR1	100050899	F7B4G7		Equus caballus	Prediction	More>>
1:1 ortholog	ACVR1	90	Q04771		Homo sapiens	Prediction	More>>
1:1 ortholog	Acvr1	11477	P37172	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ACVR1		A0A2I3RBB9		Pan troglodytes	Prediction	More>>
1:1 ortholog	ACVR1	100152307	E9M2M1		Sus scrofa	Prediction	More>>
1:1 ortholog	ACVR1	100355119	G1SHK1		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Acvr1	79558	A0A0G2K2P7		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1280889930	p.Val2Ile	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
rs1203606345	p.Gly4Glu	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
rs756630764	p.Val5Met	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
rs753322618	p.Pro9Ser	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
rs759017686	p.Ile12Val	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
rs1315007491	p.Met13Arg	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
rs773936526	p.Ile14Phe	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
rs13406336	p.Ala15Gly	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000350817	p.Ala15Gly	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
COSM3568196	p.Pro17Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157799445G>A	NCI-TCGA Cosmic
rs745444504	p.Ser18Thr	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
rs745444504	p.Ser18Ala	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
rs1383805044	p.Ser18Tyr	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
rs1158969294	p.Pro19Ser	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
COSM4085822	p.Ser20Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157799436T>C	NCI-TCGA Cosmic
rs1383193990	p.Ser20Asn	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
rs1170014341	p.Met21Val	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
rs1473120013	p.Glu22Gln	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
rs1157679779	p.Lys25Arg	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
rs377197386	p.Pro26Ser	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
rs1426099891	p.Val28Phe	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
rs761642757	p.Asn29Ile	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn29Ser	missense variant	-	NC_000002.12:g.157780582T>C	NCI-TCGA
rs1364644712	p.Pro30Arg	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
rs547743970	p.Lys31Arg	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs373607071	p.Leu32Pro	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
rs201453468	p.Tyr33Ter	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757848830	p.Met34Thr	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
rs370437421	p.Met34Val	missense variant	-	NC_000002.12:g.157780568T>C	ESP
rs757848830	p.Met34Arg	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
rs757848830	p.Met34Lys	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
rs377466501	p.Val36Ala	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
rs377466501	p.Val36Glu	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
COSM1008059	p.Glu38ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.157780555_157780556insCA	NCI-TCGA Cosmic
rs983884500	p.Gly39Ser	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
rs55957214	p.Ser41Phe	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
rs55957214	p.Ser41Phe	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
VAR_041393	p.Ser41Phe	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
rs112489929	p.Gly43Ser	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
rs1321405252	p.Asn44Ser	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
rs1006682010	p.Asn44His	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu45Lys	missense variant	-	NC_000002.12:g.157780535C>T	NCI-TCGA
rs1219780031	p.Asp46Ala	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
rs889434177	p.His47Tyr	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
rs889434177	p.His47Asn	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
rs889434177	p.His47Asp	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
rs34056189	p.His47Gln	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000406342	p.His47Gln	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
rs1219953789	p.Glu49Lys	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
COSM6154652	p.Gly50Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780519C>A	NCI-TCGA Cosmic
COSM1008057	p.Gly50Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780520C>A	NCI-TCGA Cosmic
rs1320913728	p.Gln51His	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
rs1266976280	p.Gln52His	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
rs1300205903	p.Phe54Ser	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
rs779531410	p.Ser58Thr	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
rs1296302175	p.Ile59Val	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
rs1296302175	p.Ile59Phe	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
COSM4912317	p.Asn60Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780489T>C	NCI-TCGA Cosmic
rs772534199	p.Asp61Asn	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
rs748590407	p.Asp61Val	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
rs748590407	p.Asp61Gly	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly62Ser	missense variant	-	NC_000002.12:g.157780484C>T	NCI-TCGA
rs764818005	p.Phe63Ser	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
rs370028017	p.Val65Ile	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
COSM69527	p.Gly69Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780462C>A	NCI-TCGA Cosmic
rs1176995618	p.Glu75Gly	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
rs763961607	p.Gln76Arg	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
rs763961607	p.Gln76Pro	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
rs1240600134	p.Lys78Glu	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
rs1403278698	p.Met79Ile	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
NCI-TCGA novel	p.Cys81Tyr	missense variant	-	NC_000002.12:g.157780426C>T	NCI-TCGA
rs1354910596	p.Lys82Glu	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
rs775537696	p.Pro84Gln	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
rs775537696	p.Pro84Leu	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
rs1329223493	p.Pro85Leu	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
rs773459224	p.Ser86Phe	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
rs1036913529	p.Pro87Leu	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
NCI-TCGA novel	p.Gly88Val	missense variant	-	NC_000002.12:g.157780405C>A	NCI-TCGA
rs1033271814	p.Gln89Arg	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
rs1377494192	p.Ala90Thr	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
rs1367397338	p.Gln95Arg	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
rs373678733	p.Gly96Glu	missense variant	-	NC_000002.12:g.157780381C>T	ESP
rs748419133	p.Gly96Arg	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
rs769135409	p.Trp98Ter	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
rs747439148	p.Asn100Ser	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
rs780585007	p.Arg101Gly	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
rs369211520	p.Arg101Thr	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
rs758925804	p.Thr104Met	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
rs376138658	p.Gln106His	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
rs1423804322	p.Pro108Ser	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
rs138808563	p.Lys112Asn	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys112Thr	missense variant	-	NC_000002.12:g.157778339T>G	NCI-TCGA
rs1303422236	p.Ser113Thr	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
VAR_041395	p.Pro115Ser	Missense	-	-	UniProt
rs1265994310	p.His121Leu	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
rs756858830	p.His121Tyr	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
rs748870121	p.Val124Phe	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
rs1278430564	p.Val124Ala	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
rs1277715491	p.Ile127Val	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
rs1400837052	p.Ile128Phe	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
rs755755509	p.Leu129Phe	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
rs1342623415	p.Ser130Phe	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
rs767431486	p.Val131Ile	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val131Ala	missense variant	-	NC_000002.12:g.157778282A>G	NCI-TCGA
rs74905152	p.Val132Ala	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
rs1450825927	p.Phe133Leu	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
rs765195676	p.Ala134Ser	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
rs765195676	p.Ala134Thr	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
COSM4085821	p.Leu141Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157778252A>T	NCI-TCGA Cosmic
rs760813831	p.Leu141Pro	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly143Ter	stop gained	-	NC_000002.12:g.157778247C>A	NCI-TCGA
rs775776209	p.Val144Ala	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala145Thr	missense variant	-	NC_000002.12:g.157778241C>T	NCI-TCGA
rs373187352	p.Arg147Gln	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
rs1267861432	p.Arg147Ter	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
rs746369903	p.Phe149Tyr	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe149Cys	missense variant	-	NC_000002.12:g.157778228A>C	NCI-TCGA
rs1381732329	p.Arg151Trp	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
rs771363719	p.Arg152Cys	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
rs748791232	p.Arg152His	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
rs1281575126	p.Asn153Asp	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
rs1232871090	p.Gln154Lys	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
rs1332027312	p.Glu155Gln	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
rs755732603	p.Arg156Leu	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
rs777150519	p.Arg156Cys	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
rs755732603	p.Arg156His	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
rs781127308	p.Asn158Ser	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
rs374836197	p.Pro159Ser	missense variant	-	NC_000002.12:g.157778199G>A	ESP
rs188547477	p.Arg160Gly	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
rs751524299	p.Arg160Gln	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
rs766295467	p.Asp161Glu	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
rs201452185	p.Val162Met	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
rs1377987645	p.Tyr164Ser	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
rs1269251512	p.Gly165Asp	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
rs764097240	p.Glu168Lys	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
rs979341093	p.Leu170Phe	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
COSM1325846	p.Ile171Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157778163T>A	NCI-TCGA Cosmic
rs1315491312	p.Ile171Thr	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
rs145150729	p.Thr172Ser	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
rs1199234423	p.Thr173Ile	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
rs374178479	p.Asn174Ile	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
rs374178479	p.Asn174Ser	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
rs374178479	p.Asn174Thr	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
rs759844485	p.Ser178Arg	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
rs774729034	p.Thr179Ala	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
rs767686530	p.Leu183Val	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu183Ser	missense variant	-	NC_000002.12:g.157774183A>G	NCI-TCGA
rs41265129	p.Leu184Phe	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
COSM1008055	p.Asp185Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157774177T>C	NCI-TCGA Cosmic
rs766710069	p.His186Arg	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
rs751891766	p.His186Tyr	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
rs146610930	p.Ser187Leu	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
rs769402195	p.Cys188Tyr	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
COSM3895036	p.Ser190Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157774162G>A	NCI-TCGA Cosmic
RCV000190876	p.Leu196Pro	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
rs797045135	p.Leu196Pro	missense variant	-	NC_000002.12:g.157774144A>G	-
VAR_058418	p.Pro197_Phe198delinsLeu	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
rs387906591	p.Arg202Ile	missense variant	-	NC_000002.12:g.157774126C>A	-
rs387906591	p.Arg202Ile	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
VAR_058419	p.Arg202Ile	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
RCV000022434	p.Arg202Ile	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
rs1040973331	p.Thr203Arg	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
RCV000019971	p.Arg206His	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
rs121912678	p.Arg206His	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
VAR_028444	p.Arg206His	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
rs121912678	p.Arg206Pro	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
rs121912678	p.Arg206His	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
RCV000422441	p.Arg206His	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
rs771829967	p.Gln207His	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
rs779886918	p.Gln207Pro	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
VAR_058420	p.Gln207Glu	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
rs201872272	p.Glu212Asp	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu212Lys	missense variant	-	NC_000002.12:g.157774097C>T	NCI-TCGA
RCV000658878	p.Cys213Tyr	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
rs778765499	p.Cys213Tyr	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
rs778765499	p.Cys213Ser	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val214Ala	missense variant	-	NC_000002.12:g.157774090A>G	NCI-TCGA
rs1396618797	p.Lys216Asn	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
rs1198591575	p.Tyr219Cys	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
rs1198591575	p.Tyr219Cys	missense variant	-	NC_000002.12:g.157770502T>C	NCI-TCGA
rs1465199127	p.Trp223Ter	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
rs1401182199	p.Ser226Asn	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
rs902199134	p.Ser226Gly	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
COSM1564743	p.Trp227Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157770477C>A	NCI-TCGA Cosmic
rs1271017134	p.Gln228His	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
rs770796956	p.Gly229Glu	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
rs749279563	p.Glu230Gly	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala233Val	missense variant	-	NC_000002.12:g.157770460G>A	NCI-TCGA
rs1198616498	p.Val234Met	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
rs747230014	p.Ile236Leu	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe237Ter	stop gained	-	NC_000002.12:g.157770448_157770449insTAACTACCTTTGCTTCATGATTCTAGAGTACTTTT	NCI-TCGA
rs750691291	p.Arg240Ser	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
rs750691291	p.Arg240Cys	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu242Val	missense variant	-	NC_000002.12:g.157770433T>A	NCI-TCGA
rs765713093	p.Trp245Ter	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
rs765713093	p.Trp245Leu	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
rs757827984	p.Trp245Ter	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
rs763667205	p.Phe246Tyr	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
rs754465233	p.Phe246Leu	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe246Ser	missense variant	-	NC_000002.12:g.157770421A>G	NCI-TCGA
COSM6088277	p.Arg247Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157770418C>T	NCI-TCGA Cosmic
rs760152551	p.Thr249Met	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
COSM1008051	p.Leu251Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157770406A>G	NCI-TCGA Cosmic
rs1177191263	p.Val255Leu	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
rs1236989443	p.Met256Arg	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
rs1057519875	p.Arg258Met	missense variant	-	NC_000002.12:g.157770385C>A	-
rs1057519875	p.Arg258Met	missense variant	-	NC_000002.12:g.157770385C>A	NCI-TCGA Cosmic
RCV000437179	p.Arg258Gly	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
RCV000198218	p.Arg258Gly	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
rs863224846	p.Arg258Gly	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
rs121912680	p.Arg258Ser	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
RCV000426913	p.Arg258Gly	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
RCV000019973	p.Arg258Ser	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
NCI-TCGA novel	p.Arg258Trp	missense variant	-	NC_000002.12:g.157770386T>A	NCI-TCGA
RCV000444963	p.Arg258Met	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
RCV000426291	p.Arg258Met	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
NCI-TCGA novel	p.Glu260Lys	missense variant	-	NC_000002.12:g.157770380C>T	NCI-TCGA
rs752089024	p.Phe265Ile	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
rs767113095	p.Ile266Val	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
rs1254939246	p.Asp269Asn	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
rs1188212622	p.Thr271Ala	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
rs375487177	p.His274Tyr	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
RCV000266265	p.His274Tyr	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
rs1260691632	p.Ser276Asn	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ile282Val	missense variant	-	NC_000002.12:g.157766143T>C	NCI-TCGA
rs766136409	p.His286Asn	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
COSM6154653	p.Glu287Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157766128C>T	NCI-TCGA Cosmic
rs762684873	p.Met288Leu	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
rs762684873	p.Met288Val	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser290Leu	missense variant	-	NC_000002.12:g.157766118G>A	NCI-TCGA
rs1403640582	p.Leu291Met	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
NCI-TCGA novel	p.Leu295Ile	missense variant	-	NC_000002.12:g.157766104G>T	NCI-TCGA
rs1297924053	p.Gln296Glu	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
rs772263790	p.Thr298Ser	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
COSM1400287	p.Thr299Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157766092T>C	NCI-TCGA Cosmic
rs746058852	p.Thr299Ser	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu300Val	missense variant	-	NC_000002.12:g.157766089G>C	NCI-TCGA
rs779328796	p.Thr302Ile	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
rs771301363	p.Ser304Asn	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
rs771301363	p.Ser304Ile	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
rs377300823	p.Cys305Ser	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
rs778212213	p.Arg307Ter	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
rs766547414	p.Arg307Gln	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
rs766547414	p.Arg307Leu	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
rs766547414	p.Arg307Gln	missense variant	-	NC_000002.12:g.157766067C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala317Val	missense variant	-	NC_000002.12:g.157766037G>A	NCI-TCGA
rs1184040818	p.Gln327Glu	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
RCV000022431	p.Gly328Trp	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
RCV000445088	p.Gly328Val	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
RCV000022430	p.Gly328Arg	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
rs387906588	p.Gly328Trp	missense variant	-	NC_000002.12:g.157766005C>A	-
rs387906588	p.Gly328Trp	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
VAR_058423	p.Gly328Trp	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
rs387906589	p.Gly328Glu	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
VAR_058421	p.Gly328Glu	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
rs387906588	p.Gly328Arg	missense variant	-	NC_000002.12:g.157766005C>T	-
rs387906588	p.Gly328Arg	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
VAR_058422	p.Gly328Arg	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
rs387906589	p.Gly328Val	missense variant	-	NC_000002.12:g.157766004C>A	NCI-TCGA Cosmic
RCV000624246	p.Gly328Glu	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
rs1207985115	p.Lys329Asn	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
rs934382490	p.Lys329Ter	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
rs1471307549	p.Pro330Ala	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
rs1273830277	p.Ala331Ser	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
rs1215662062	p.Ile332Val	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
NCI-TCGA novel	p.His334Arg	missense variant	-	NC_000002.12:g.157765986T>C	NCI-TCGA
rs1316254232	p.Arg335Gln	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
rs1316254232	p.Arg335Gln	missense variant	-	NC_000002.12:g.157765983C>T	NCI-TCGA
NCI-TCGA novel	p.Leu337Ser	missense variant	-	NC_000002.12:g.157765977A>G	NCI-TCGA
NCI-TCGA novel	p.Ser339Ile	missense variant	-	NC_000002.12:g.157765971C>A	NCI-TCGA
rs1328556577	p.Val344Gly	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
NCI-TCGA novel	p.Val344Asp	missense variant	-	NC_000002.12:g.157765956A>T	NCI-TCGA
rs1299645908	p.Lys345Arg	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
rs144048685	p.Lys346Asn	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
rs1325945796	p.Ile352Val	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
rs1397562603	p.Leu355Phe	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
rs121912679	p.Gly356Asp	missense variant	-	NC_000002.12:g.157761077C>T	-
rs121912679	p.Gly356Asp	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
VAR_058424	p.Gly356Asp	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
rs121912679	p.Gly356Asp	missense variant	-	NC_000002.12:g.157761077C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000019972	p.Gly356Asp	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
rs1374008691	p.Met360Val	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
rs1398213948	p.Asn372Ser	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
rs1453500793	p.Asn373Ser	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
RCV000022433	p.Arg375Pro	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
rs751000395	p.Arg375Cys	missense variant	-	NC_000002.12:g.157761021G>A	NCI-TCGA,NCI-TCGA Cosmic
rs387906590	p.Arg375Pro	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
VAR_058425	p.Arg375Pro	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
rs387906590	p.Arg375Pro	missense variant	-	NC_000002.12:g.157761020C>G	-
rs751000395	p.Arg375Cys	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg375His	missense variant	-	NC_000002.12:g.157761020C>T	NCI-TCGA
rs984482376	p.Arg380Cys	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg380His	missense variant	-	NC_000002.12:g.157761005C>T	NCI-TCGA
rs1237577558	p.Met382Val	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
rs750147467	p.Ala383Val	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
rs764912823	p.Pro384Ser	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
rs764912823	p.Pro384Ser	missense variant	-	NC_000002.12:g.157760994G>A	NCI-TCGA
rs1034717563	p.Glu385Lys	missense variant	-	NC_000002.12:g.157760991C>T	NCI-TCGA
rs1034717563	p.Glu385Lys	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
rs1325715485	p.Ile391Val	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
rs753599813	p.Gln392Arg	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
rs1282994566	p.Gln392His	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
rs753599813	p.Gln392Leu	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
rs753599813	p.Gln392Pro	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
rs753599813	p.Gln392Leu	missense variant	-	NC_000002.12:g.157760969T>A	NCI-TCGA
rs764053318	p.Asp394Asn	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
rs760693961	p.Phe396Ile	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
rs766633229	p.Asp397Asn	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
rs1331769971	p.Tyr399Cys	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
rs1064796674	p.Lys400Glu	missense variant	-	NC_000002.12:g.157760946T>C	-
RCV000478819	p.Lys400Glu	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
rs1301730759	p.Arg401Thr	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
NCI-TCGA novel	p.Arg401Ser	missense variant	-	NC_000002.12:g.157760941C>G	NCI-TCGA
rs773531681	p.Val402Phe	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
rs773531681	p.Val402Ile	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
rs1314502834	p.Asp403Asn	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
rs1314502834	p.Asp403Asn	missense variant	-	NC_000002.12:g.157760937C>T	NCI-TCGA
rs1417727949	p.Ile404Ser	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
NCI-TCGA novel	p.Glu413Gln	missense variant	-	NC_000002.12:g.157760907C>G	NCI-TCGA
rs1389258569	p.Ala415Asp	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
rs1366850999	p.Arg417Gln	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
rs549634108	p.Met418Thr	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
rs1035254243	p.Val419Leu	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
rs1035254243	p.Val419Leu	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val419Met	missense variant	-	NC_000002.12:g.157760889C>T	NCI-TCGA
rs769089859	p.Asn421Ser	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
rs1420336375	p.Ile423Thr	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
rs1191828453	p.Glu425Ala	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
rs1191828453	p.Glu425Gly	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu425Gln	missense variant	-	NC_000002.12:g.157738562C>G	NCI-TCGA
rs568204852	p.Pro429Leu	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
rs761950656	p.Pro429Ser	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
COSM5860334	p.Pro430Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157738546G>A	NCI-TCGA Cosmic
rs769079595	p.Tyr432Cys	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
rs776029462	p.Asp433Asn	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
rs1026045983	p.Asp433Gly	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
rs1262652803	p.Pro436Ser	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
rs1216474559	p.Asn437Asp	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
rs375101352	p.Asn437Ser	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
rs745343863	p.Ser440Gly	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
rs1329295647	p.Asp443Asn	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
rs1485718076	p.Met444Thr	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
rs1325258776	p.Met444Ile	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
rs1243033111	p.Met444Val	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
rs1462003079	p.Arg445LysTerUnk	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
rs1477301509	p.Asp451Val	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
NCI-TCGA novel	p.Asp451Asn	missense variant	-	NC_000002.12:g.157738484C>T	NCI-TCGA
rs756022457	p.Gln452Leu	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
rs148153887	p.Arg454Gly	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
rs781232217	p.Ile457Val	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
rs1244629836	p.Ile457Lys	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
rs886042941	p.Asp464Glu	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
RCV000399910	p.Asp464Glu	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
rs750457181	p.Pro465Leu	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
rs754926966	p.Thr466Ile	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
rs145780526	p.Thr468Ile	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
rs145780526	p.Thr468Ser	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
rs751515337	p.Thr468Ala	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
rs751515337	p.Thr468Ser	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
rs989403918	p.Ser469Cys	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
rs757333055	p.Ser469Ala	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala471Ser	missense variant	-	NC_000002.12:g.157737650C>A	NCI-TCGA
rs1178573933	p.Tyr479Cys	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
rs1161864114	p.Pro482Thr	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
rs1256476437	p.Ala484Thr	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
rs767830176	p.Arg485Ser	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu486Pro	missense variant	-	NC_000002.12:g.157737604A>G	NCI-TCGA
rs554387941	p.Arg490His	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
rs554387941	p.Arg490Pro	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys493Asn	missense variant	-	NC_000002.12:g.157737582C>A	NCI-TCGA
COSM73566	p.Leu495Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157737576C>G	NCI-TCGA Cosmic
rs1026520055	p.Ile498Thr	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
rs1226764570	p.Asp499Asn	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
rs769751827	p.Asp503Asn	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
NCI-TCGA novel	p.Lys504Ile	missense variant	-	NC_000002.12:g.157737550T>A	NCI-TCGA
RCV000520774	p.Asp508Ter	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
rs747858448	p.Cys509Arg	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
rs387906589	p.Gly328Glu	missense variant	-	NC_000002.12:g.157766004C>T	-
rs387906589	p.Gly328Val	missense variant	-	NC_000002.12:g.157766004C>A	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002170	Alopecia	disease	HPO
C0004096	Asthma	disease	LHGDN
C0004114	Astrocytoma	disease	BEFREE;CTD_human
C0006142	Malignant neoplasm of breast	disease	CTD_human
C0006386	Bunion	phenotype	HPO
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0013080	Down Syndrome	disease	BEFREE
C0013720	Ehlers-Danlos Syndrome	disease	GENOMICS_ENGLAND
C0014116	Endocardial Cushion Defects	group	BEFREE
C0016037	Fibrodysplasia Ossificans Progressiva	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0017638	Glioma	disease	BEFREE;CGI;CTD_human
C0018536	Hallux Valgus	phenotype	BEFREE;HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018777	Conductive hearing loss	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0018798	Congenital Heart Defects	group	BEFREE
C0018816	Heart Septal Defects	group	BEFREE
C0025202	melanoma	disease	UNIPROT
C0027022	Myeloproliferative disease	group	BEFREE
C0027122	Myositis Ossificans	disease	CTD_human;LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE;LHGDN
C0035229	Respiratory Insufficiency	phenotype	HPO
C0036631	Seminoma	disease	BEFREE
C0037932	Curvature of spine	phenotype	HPO
C0151811	Subcutaneous nodule	phenotype	HPO
C0152018	Esophageal carcinoma	disease	BEFREE
C0158458	Acquired hallux valgus	phenotype	BEFREE
C0205768	Subependymal Giant Cell Astrocytoma	disease	CTD_human
C0206624	Hepatoblastoma	disease	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0242488	Acute Lung Injury	disease	CTD_human
C0259783	mixed gliomas	disease	CTD_human
C0265656	Congenital hallux valgus	phenotype	BEFREE
C0278701	Gastric Adenocarcinoma	disease	CLINVAR
C0280783	Juvenile Pilocytic Astrocytoma	disease	CTD_human
C0280785	Diffuse Astrocytoma	disease	CTD_human
C0334579	Anaplastic astrocytoma	disease	CTD_human
C0334580	Protoplasmic astrocytoma	disease	CTD_human
C0334581	Gemistocytic astrocytoma	disease	CTD_human
C0334582	Fibrillary Astrocytoma	disease	CTD_human
C0334583	Pilocytic Astrocytoma	disease	CTD_human
C0338070	Childhood Cerebral Astrocytoma	disease	CTD_human
C0339789	Congenital deafness	disease	HPO
C0344735	Partial atrioventricular canal	disease	BEFREE
C0345050	Congenital aneurysm of ascending aorta	disease	GENOMICS_ENGLAND
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0547065	Mixed oligoastrocytoma	disease	CTD_human
C0555198	Malignant Glioma	disease	CTD_human
C0600139	Prostate carcinoma	disease	BEFREE
C0677865	Brain Stem Glioma	disease	CLINVAR
C0678222	Breast Carcinoma	disease	CTD_human
C0700208	Acquired scoliosis	phenotype	HPO
C0746926	Multiple, subcutaneous nodules	disease	HPO
C0750935	Cerebral Astrocytoma	disease	CTD_human
C0750936	Intracranial Astrocytoma	disease	CTD_human
C0858617	Posterior subcapsular cataract	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1145670	Respiratory Failure	disease	HPO
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1266129	Atypical Lipoma	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1302790	Congenital malformation syndrome	group	BEFREE
C1332951	Childhood Brain Stem Neoplasm	disease	BEFREE
C1337014	Grade I Chondrosarcoma	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1389018	Atrioventricular Septal Defect	disease	BEFREE
C1458155	Mammary Neoplasms	group	CTD_human
C1527249	Colorectal Cancer	disease	BEFREE
C1704230	Grade I Astrocytoma	disease	CTD_human
C1705254	Neonatal Deformity	disease	BEFREE
C1834129	Abnormal vertebral morphology	phenotype	HPO
C1844813	Widely spaced teeth	phenotype	HPO
C1849016	Broad femoral neck	phenotype	HPO
C1849039	Metaphyseal widening	phenotype	HPO
C1849311	Short 1st metacarpal	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1851129	Progressive cervical vertebral spine fusion	phenotype	HPO
C1851130	Small cervical vertebral bodies	phenotype	HPO
C1857108	Limitation of joint mobility	phenotype	HPO
C1858025	Spinal rigidity	phenotype	HPO
C1865992	Short hallux	phenotype	HPO
C2827362	Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement	disease	BEFREE
C2986658	Diffuse Intrinsic Pontine Glioma	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020839	Multiple vertebral anomalies	phenotype	HPO
C4020840	Abnormal vertebral bodies	phenotype	HPO
C4020855	Respiratory function loss	phenotype	HPO
C4023094	Ectopic ossification in ligament tissue	phenotype	HPO
C4023095	Ectopic ossification in tendon tissue	phenotype	HPO
C4023096	Ectopic ossification in muscle tissue	phenotype	HPO
C4024079	Aplasia/Hypoplasia of the phalanges of the hallux	phenotype	HPO
C4024082	Abnormality of the first metatarsal bone	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004672	protein kinase activity	IDA
GO:0004674	protein serine/threonine kinase activity	IDA
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	NAS
GO:0005025	transforming growth factor beta receptor activity, type I	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA
GO:0017046	peptide hormone binding	NAS
GO:0042803	protein homodimerization activity	IDA
GO:0045296	cadherin binding	IPI
GO:0046332	SMAD binding	IDA
GO:0046872	metal ion binding	IEA
GO:0048185	activin binding	IDA
GO:0050431	transforming growth factor beta binding	IDA
GO:1990782	protein tyrosine kinase binding	IPI
GO:0016361	activin receptor activity, type I	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000082	G1/S transition of mitotic cell cycle	IMP
GO:0001525	angiogenesis	IBA
GO:0001569	branching involved in blood vessel morphogenesis	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001702	gastrulation with mouth forming second	IEA
GO:0001707	mesoderm formation	IEA
GO:0001755	neural crest cell migration	IEA
GO:0002526	acute inflammatory response	IEA
GO:0003143	embryonic heart tube morphogenesis	IMP
GO:0003181	atrioventricular valve morphogenesis	ISS
GO:0003183	mitral valve morphogenesis	IMP
GO:0003203	endocardial cushion morphogenesis	ISS
GO:0003274	endocardial cushion fusion	ISS
GO:0003289	atrial septum primum morphogenesis	ISS
GO:0003289	atrial septum primum morphogenesis	IMP
GO:0006468	protein phosphorylation	IDA
GO:0006468	protein phosphorylation	IBA
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA
GO:0007281	germ cell development	IEA
GO:0007368	determination of left/right symmetry	IEA
GO:0007507	heart development	IBA
GO:0009968	negative regulation of signal transduction	IMP
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0018107	peptidyl-threonine phosphorylation	IDA
GO:0030278	regulation of ossification	IMP
GO:0030335	positive regulation of cell migration	IGI
GO:0030501	positive regulation of bone mineralization	IMP
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	IBA
GO:0032924	activin receptor signaling pathway	IMP
GO:0032924	activin receptor signaling pathway	IDA
GO:0032926	negative regulation of activin receptor signaling pathway	IMP
GO:0045669	positive regulation of osteoblast differentiation	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP
GO:0051145	smooth muscle cell differentiation	IEA
GO:0060037	pharyngeal system development	IEA
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA
GO:0060412	ventricular septum morphogenesis	ISS
GO:0060923	cardiac muscle cell fate commitment	IMP
GO:0061312	BMP signaling pathway involved in heart development	ISS
GO:0061445	endocardial cushion cell fate commitment	IMP
GO:0071363	cellular response to growth factor stimulus	IBA
GO:0071773	cellular response to BMP stimulus	IMP
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:2000017	positive regulation of determination of dorsal identity	IDA
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP
GO:0003148	outflow tract septum morphogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IBA
GO:0005887	integral component of plasma membrane	IDA
GO:0043235	receptor complex	IBA
GO:0045177	apical part of cell	IEA
GO:0048179	activin receptor complex	IDA
GO:0070724	BMP receptor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of ACVR1 mRNA	19114083
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of ACVR1 mRNA	23196670
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of ACVR1 mRNA	18648102
C496492	abrine	abrine results in increased expression of ACVR1 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ACVR1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of ACVR1 mRNA	19770486
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ACVR1 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of ACVR1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ACVR1 mRNA	26238291
C006780	bisphenol A	bisphenol A affects the expression of ACVR1 mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of ACVR1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased methylation of ACVR1 promoter	27271280
C006780	bisphenol A	bisphenol A results in increased methylation of ACVR1 gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of ACVR1 mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of ACVR1 mRNA	24752500; 25979313;
D002713	Chlorine	[Ozone co-treated with Chlorine] results in decreased expression of ACVR1 mRNA	18636392
D002762	Cholecalciferol	Cholecalciferol results in increased expression of ACVR1 mRNA	17170073
D002945	Cisplatin	Cisplatin results in decreased expression of ACVR1 mRNA	21151649
D019327	Copper Sulfate	Copper Sulfate results in increased expression of ACVR1 mRNA	19549813
D003375	Coumestrol	Coumestrol results in decreased expression of ACVR1 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in increased expression of ACVR1 mRNA	20106945; 21632981; 25562108;
D000077209	Decitabine	Decitabine results in decreased expression of ACVR1 mRNA	27915011
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ACVR1 mRNA	29950665
D004008	Diclofenac	Diclofenac affects the expression of ACVR1 mRNA	24752500
D004041	Dietary Fats	Dietary Fats results in decreased expression of ACVR1 mRNA	21852083
D000431	Ethanol	Ethanol results in increased expression of ACVR1 mRNA	28986285
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of ACVR1 mRNA	23129252
D017313	Fenretinide	Fenretinide results in decreased expression of ACVR1 mRNA	28973697
C039281	furan	furan results in increased methylation of ACVR1 gene	22079235
D019833	Genistein	Genistein results in increased methylation of ACVR1 gene	28505145
C007836	geraniol	geraniol results in increased expression of ACVR1 mRNA	27683099
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane results in decreased expression of ACVR1 mRNA	17785943
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of ACVR1 mRNA	25613284
C410337	K 7174	K 7174 results in increased expression of ACVR1 mRNA	24086573
D019344	Lactic Acid	Lactic Acid results in increased expression of ACVR1 mRNA	30851411
D007854	Lead	Lead affects the expression of ACVR1 mRNA	28903495
D000077339	Leflunomide	Leflunomide results in increased expression of ACVR1 mRNA	28988120
D008777	Methyltestosterone	Methyltestosterone results in increased expression of ACVR1 mRNA	29191790
C029938	nickel sulfate	nickel sulfate results in increased expression of ACVR1 mRNA	22714537
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of ACVR1 mRNA	25729387
D010126	Ozone	[Ozone co-treated with Chlorine] results in decreased expression of ACVR1 mRNA	18636392
C016030	pantogab	pantogab results in decreased expression of ACVR1 mRNA	17379144
D010269	Paraquat	Paraquat affects the expression of ACVR1 mRNA	15206577
D010269	Paraquat	Paraquat results in decreased expression of ACVR1 mRNA	18198484
D010578	Petroleum	Petroleum affects the expression of ACVR1 mRNA	25208076
D010634	Phenobarbital	Phenobarbital affects the expression of ACVR1 mRNA	19159669
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ACVR1 mRNA	19710929
D011374	Progesterone	Progesterone results in decreased expression of ACVR1 mRNA	21795739
C045950	propiconazole	propiconazole results in increased expression of ACVR1 mRNA	21278054
D012715	Sesame Oil	Sesame Oil results in decreased expression of ACVR1 mRNA	29191790
C017947	sodium arsenite	sodium arsenite results in increased expression of ACVR1 mRNA	22714537; 24570342;
C017947	sodium arsenite	sodium arsenite results in increased methylation of ACVR1 gene	24570342
D012999	Soman	Soman results in increased expression of ACVR1 mRNA	19281266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ACVR1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ACVR1 mRNA	20959002
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of ACVR1 mRNA	25613284
D019284	Thapsigargin	Thapsigargin results in increased expression of ACVR1 mRNA	29453283
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ACVR1 mRNA	29950665
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ACVR1 mRNA	29545142
D014050	Toluene	Toluene results in increased expression of ACVR1 mRNA	22967744
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of ACVR1 mRNA	25729387
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of ACVR1 mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in increased expression of ACVR1 mRNA	22378314
D014520	Urethane	Urethane results in increased expression of ACVR1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of ACVR1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ACVR1 mRNA	23179753
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of ACVR1 gene	25560391
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical affects the expression of ACVR1 mRNA	25208076

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0067	ATP-binding
KW-0225	Disease mutation
KW-0325	Glycoprotein
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
IPR000472	Activin_recp
IPR003605	GS_dom
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

PROSITE

PROSITE ID	PROSITE Term
PS51256	GS
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF01064	Activin_recp
PF07714	Pkinase_Tyr
PF08515	TGF_beta_GS

Gene: ACVR1

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