ACVR1

activin A receptor type 1

Summary

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

Known Variants272 total

rsidPosition (GRCh37)AllelesClassClinVar
rs743921932:158,593,252T/A—benign
rs1129080892:158,593,281T/C—benign
rs10281343992:158,593,291T/C—uncertain significance
rs16845486132:158,593,292A/C—uncertain significance
rs5508781342:158,593,332T/C—uncertain significance
rs129972:158,593,357A/G—benign
rs8860549852:158,593,543C/T—uncertain significance
rs7617273582:158,593,622C/T—uncertain significance
rs795981882:158,593,685C/T—benign
rs1400050032:158,593,729T/G—uncertain significance
rs8860549862:158,593,793G/C—uncertain significance
rs8860549872:158,593,833T/G—uncertain significance
rs1135982012:158,593,860C/T—benign
rs1112621232:158,593,861G/A—uncertain significance
rs3736708472:158,593,891C/T—benign
rs22289482:158,593,905T/C—benign
rs5406073792:158,593,906G/A—uncertain significance
rs556673272:158,593,996G/A—benign
rs129362:158,593,998C/A—benign
rs37389272:158,594,060A/G—benign
rs3678578272:158,594,064G/A—likely benign
rs557880412:158,594,067G/A—likely benign
rs24678633412:158,594,100G/A—likely benign
rs24678634372:158,594,115G/C—likely benign
rs3724682782:158,594,124G/A—likely benign
rs2000769992:158,594,154T/A—likely benign
rs9894039182:158,594,167G/C—uncertain significance
rs7573330552:158,594,168A/C—uncertain significance
rs24678637392:158,594,169G/A—likely benign
rs1457805262:158,594,170G/A—uncertain significance
rs9149424192:158,594,175T/A—conflicting classifications of pathogenicity
rs7775186782:158,594,197A/C—likely benign
rs37389262:158,594,315C/T—benign
rs764605382:158,594,408T/C—benign
rs3700081412:158,594,937A/G—likely benign
rs7781332912:158,594,945T/C—benign
rs7620944642:158,594,947C/T—likely benign
rs3738559182:158,594,952C/T—conflicting classifications of pathogenicity
rs7504571812:158,594,953G/A—conflicting classifications of pathogenicity
rs8860429412:158,594,955G/C—uncertain significance
rs24678665962:158,594,962A/G—uncertain significance
rs11962922782:158,594,973G/C—likely benign
rs10111420752:158,594,979G/A—likely benign
rs1481538872:158,594,987T/G—likely benign
rs7776782492:158,594,997C/T—likely benign
rs21052168592:158,594,999C/T—uncertain significance
rs16846269992:158,595,009C/G—uncertain significance
rs7453438632:158,595,029T/C—uncertain significance
rs3751013522:158,595,037T/C—uncertain significance
rs21052169572:158,595,039G/A—likely benign
rs24678669832:158,595,043A/G—uncertain significance
rs7760294622:158,595,050C/T—uncertain significance
rs2011318232:158,595,051G/A—likely benign
rs1430683252:158,595,057C/T—likely benign
rs16846316382:158,595,089A/C—likely benign
rs745777312:158,604,296G/Aregulatory region variant—
rs7454883282:158,617,373T/G—likely benign
rs7475758452:158,617,379A/G—likely benign
rs10352542432:158,617,401C/G—uncertain significance
rs5496341082:158,617,403A/G—uncertain significance
rs13668509992:158,617,406C/T—uncertain significance
rs7753701362:158,617,407G/A—uncertain significance
rs8977563932:158,617,414C/T—uncertain significance
rs14711866972:158,617,429A/G—likely benign
rs7735316812:158,617,452C/T—uncertain significance
rs24679192972:158,617,453C/A—uncertain significance
rs10647966742:158,617,458T/C—uncertain significance
rs21052523652:158,617,459A/G—likely benign
rs24679194052:158,617,477C/A—likely benign
rs15740311302:158,617,478A/C—uncertain significance
rs24679194192:158,617,479C/T—uncertain significance
rs7571253682:158,617,504G/A—likely benign
rs15740311902:158,617,507G/A—likely benign
rs24679195912:158,617,514T/C—uncertain significance
rs7580359942:158,617,516G/A—likely benign
rs561897102:158,617,525G/A—benign
rs21052525652:158,617,530C/T—likely benign
rs3879065902:158,617,532C/Gmissense variantpathogenic
rs15740312642:158,617,547A/G—likely benign
rs1494982192:158,617,570G/T—benign
rs24679198302:158,617,576C/T—uncertain significance
rs16856321152:158,617,583G/T—uncertain significance
rs7485798332:158,617,585C/T—likely benign
rs1219126792:158,617,589C/Tmissense variantpathogenic
rs3722603192:158,617,602A/C—likely benign
rs2019576692:158,617,604A/G—likely benign
rs9321809512:158,617,605T/A—likely benign
rs168420152:158,617,814A/G—benign
rs16858445682:158,622,416T/C—likely benign
rs13259457962:158,622,445T/C—uncertain significance
rs1440486852:158,622,461C/A—uncertain significance
rs12195335932:158,622,470C/T—uncertain significance
rs24679323032:158,622,481T/C—uncertain significance
rs24679323122:158,622,485C/A—uncertain significance
rs14713075492:158,622,511G/A—uncertain significance
rs3879065892:158,622,516C/Tmissense variantpathogenic
rs3879065882:158,622,517C/Amissense variantpathogenic
rs13902604182:158,622,533C/T—likely benign
rs14125200612:158,622,542C/G—uncertain significance
rs9364013442:158,622,569C/T—likely benign

Showing 100 of 272 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.