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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs74392193 | 2:158,593,252 | T/A | — | benign |
| rs112908089 | 2:158,593,281 | T/C | — | benign |
| rs1028134399 | 2:158,593,291 | T/C | — | uncertain significance |
| rs1684548613 | 2:158,593,292 | A/C | — | uncertain significance |
| rs550878134 | 2:158,593,332 | T/C | — | uncertain significance |
| rs12997 | 2:158,593,357 | A/G | — | benign |
| rs886054985 | 2:158,593,543 | C/T | — | uncertain significance |
| rs761727358 | 2:158,593,622 | C/T | — | uncertain significance |
| rs79598188 | 2:158,593,685 | C/T | — | benign |
| rs140005003 | 2:158,593,729 | T/G | — | uncertain significance |
| rs886054986 | 2:158,593,793 | G/C | — | uncertain significance |
| rs886054987 | 2:158,593,833 | T/G | — | uncertain significance |
| rs113598201 | 2:158,593,860 | C/T | — | benign |
| rs111262123 | 2:158,593,861 | G/A | — | uncertain significance |
| rs373670847 | 2:158,593,891 | C/T | — | benign |
| rs2228948 | 2:158,593,905 | T/C | — | benign |
| rs540607379 | 2:158,593,906 | G/A | — | uncertain significance |
| rs55667327 | 2:158,593,996 | G/A | — | benign |
| rs12936 | 2:158,593,998 | C/A | — | benign |
| rs3738927 | 2:158,594,060 | A/G | — | benign |
| rs367857827 | 2:158,594,064 | G/A | — | likely benign |
| rs55788041 | 2:158,594,067 | G/A | — | likely benign |
| rs2467863341 | 2:158,594,100 | G/A | — | likely benign |
| rs2467863437 | 2:158,594,115 | G/C | — | likely benign |
| rs372468278 | 2:158,594,124 | G/A | — | likely benign |
| rs200076999 | 2:158,594,154 | T/A | — | likely benign |
| rs989403918 | 2:158,594,167 | G/C | — | uncertain significance |
| rs757333055 | 2:158,594,168 | A/C | — | uncertain significance |
| rs2467863739 | 2:158,594,169 | G/A | — | likely benign |
| rs145780526 | 2:158,594,170 | G/A | — | uncertain significance |
| rs914942419 | 2:158,594,175 | T/A | — | conflicting classifications of pathogenicity |
| rs777518678 | 2:158,594,197 | A/C | — | likely benign |
| rs3738926 | 2:158,594,315 | C/T | — | benign |
| rs76460538 | 2:158,594,408 | T/C | — | benign |
| rs370008141 | 2:158,594,937 | A/G | — | likely benign |
| rs778133291 | 2:158,594,945 | T/C | — | benign |
| rs762094464 | 2:158,594,947 | C/T | — | likely benign |
| rs373855918 | 2:158,594,952 | C/T | — | conflicting classifications of pathogenicity |
| rs750457181 | 2:158,594,953 | G/A | — | conflicting classifications of pathogenicity |
| rs886042941 | 2:158,594,955 | G/C | — | uncertain significance |
| rs2467866596 | 2:158,594,962 | A/G | — | uncertain significance |
| rs1196292278 | 2:158,594,973 | G/C | — | likely benign |
| rs1011142075 | 2:158,594,979 | G/A | — | likely benign |
| rs148153887 | 2:158,594,987 | T/G | — | likely benign |
| rs777678249 | 2:158,594,997 | C/T | — | likely benign |
| rs2105216859 | 2:158,594,999 | C/T | — | uncertain significance |
| rs1684626999 | 2:158,595,009 | C/G | — | uncertain significance |
| rs745343863 | 2:158,595,029 | T/C | — | uncertain significance |
| rs375101352 | 2:158,595,037 | T/C | — | uncertain significance |
| rs2105216957 | 2:158,595,039 | G/A | — | likely benign |
| rs2467866983 | 2:158,595,043 | A/G | — | uncertain significance |
| rs776029462 | 2:158,595,050 | C/T | — | uncertain significance |
| rs201131823 | 2:158,595,051 | G/A | — | likely benign |
| rs143068325 | 2:158,595,057 | C/T | — | likely benign |
| rs1684631638 | 2:158,595,089 | A/C | — | likely benign |
| rs74577731 | 2:158,604,296 | G/A | regulatory region variant | — |
| rs745488328 | 2:158,617,373 | T/G | — | likely benign |
| rs747575845 | 2:158,617,379 | A/G | — | likely benign |
| rs1035254243 | 2:158,617,401 | C/G | — | uncertain significance |
| rs549634108 | 2:158,617,403 | A/G | — | uncertain significance |
| rs1366850999 | 2:158,617,406 | C/T | — | uncertain significance |
| rs775370136 | 2:158,617,407 | G/A | — | uncertain significance |
| rs897756393 | 2:158,617,414 | C/T | — | uncertain significance |
| rs1471186697 | 2:158,617,429 | A/G | — | likely benign |
| rs773531681 | 2:158,617,452 | C/T | — | uncertain significance |
| rs2467919297 | 2:158,617,453 | C/A | — | uncertain significance |
| rs1064796674 | 2:158,617,458 | T/C | — | uncertain significance |
| rs2105252365 | 2:158,617,459 | A/G | — | likely benign |
| rs2467919405 | 2:158,617,477 | C/A | — | likely benign |
| rs1574031130 | 2:158,617,478 | A/C | — | uncertain significance |
| rs2467919419 | 2:158,617,479 | C/T | — | uncertain significance |
| rs757125368 | 2:158,617,504 | G/A | — | likely benign |
| rs1574031190 | 2:158,617,507 | G/A | — | likely benign |
| rs2467919591 | 2:158,617,514 | T/C | — | uncertain significance |
| rs758035994 | 2:158,617,516 | G/A | — | likely benign |
| rs56189710 | 2:158,617,525 | G/A | — | benign |
| rs2105252565 | 2:158,617,530 | C/T | — | likely benign |
| rs387906590 | 2:158,617,532 | C/G | missense variant | pathogenic |
| rs1574031264 | 2:158,617,547 | A/G | — | likely benign |
| rs149498219 | 2:158,617,570 | G/T | — | benign |
| rs2467919830 | 2:158,617,576 | C/T | — | uncertain significance |
| rs1685632115 | 2:158,617,583 | G/T | — | uncertain significance |
| rs748579833 | 2:158,617,585 | C/T | — | likely benign |
| rs121912679 | 2:158,617,589 | C/T | missense variant | pathogenic |
| rs372260319 | 2:158,617,602 | A/C | — | likely benign |
| rs201957669 | 2:158,617,604 | A/G | — | likely benign |
| rs932180951 | 2:158,617,605 | T/A | — | likely benign |
| rs16842015 | 2:158,617,814 | A/G | — | benign |
| rs1685844568 | 2:158,622,416 | T/C | — | likely benign |
| rs1325945796 | 2:158,622,445 | T/C | — | uncertain significance |
| rs144048685 | 2:158,622,461 | C/A | — | uncertain significance |
| rs1219533593 | 2:158,622,470 | C/T | — | uncertain significance |
| rs2467932303 | 2:158,622,481 | T/C | — | uncertain significance |
| rs2467932312 | 2:158,622,485 | C/A | — | uncertain significance |
| rs1471307549 | 2:158,622,511 | G/A | — | uncertain significance |
| rs387906589 | 2:158,622,516 | C/T | missense variant | pathogenic |
| rs387906588 | 2:158,622,517 | C/A | missense variant | pathogenic |
| rs1390260418 | 2:158,622,533 | C/T | — | likely benign |
| rs1412520061 | 2:158,622,542 | C/G | — | uncertain significance |
| rs936401344 | 2:158,622,569 | C/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.