ACVR1C
activin A receptor type 1C
Summary
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1012432779 | 2:158,390,441 | A/T | — | uncertain significance |
| rs115359066 | 2:158,390,453 | C/T | — | benign |
| rs7594480 | 2:158,390,468 | T/C | — | benign |
| rs1014909775 | 2:158,390,491 | G/C | — | uncertain significance |
| rs773114626 | 2:158,390,529 | C/T | — | uncertain significance |
| rs76187272 | 2:158,390,626 | C/T | — | benign |
| rs4261678 | 2:158,390,766 | G/A | — | benign |
| rs6437105 | 2:158,394,813 | T/C | — | benign |
| rs116499466 | 2:158,394,919 | T/C | — | benign |
| rs7576514 | 2:158,395,079 | G/C | — | benign |
| rs372313061 | 2:158,395,091 | A/G | — | likely benign |
| rs75220520 | 2:158,395,265 | A/G | — | benign |
| rs149435555 | 2:158,397,605 | C/T | — | uncertain significance |
| rs75349715 | 2:158,399,038 | G/C | — | benign |
| rs35500979 | 2:158,399,255 | T/C | — | uncertain significance |
| rs114476591 | 2:158,399,298 | C/T | — | benign |
| rs2468333711 | 2:158,399,324 | T/C | — | uncertain significance |
| rs4254465 | 2:158,399,510 | T/A | — | benign |
| rs4461222 | 2:158,399,514 | T/G | — | benign |
| rs45501693 | 2:158,399,577 | G/A | — | benign |
| rs10432555 | 2:158,400,806 | A/C | — | benign |
| rs6728987 | 2:158,400,908 | C/T | — | benign |
| rs55885432 | 2:158,400,953 | A/G | — | benign |
| rs748195537 | 2:158,400,970 | A/C | — | uncertain significance |
| rs114905949 | 2:158,401,013 | G/A | — | uncertain significance |
| rs116070910 | 2:158,401,022 | A/C | — | uncertain significance |
| rs116789580 | 2:158,401,057 | A/G | — | benign |
| rs6746788 | 2:158,401,105 | T/C | — | benign |
| rs1687704280 | 2:158,401,123 | A/C | — | uncertain significance |
| rs10432556 | 2:158,401,137 | C/T | — | benign |
| rs1336118698 | 2:158,406,715 | C/T | — | uncertain significance |
| rs77124201 | 2:158,406,849 | T/G | — | benign |
| rs56188432 | 2:158,406,865 | A/G | — | likely benign |
| rs752612330 | 2:158,406,883 | C/T | — | uncertain significance |
| rs13010956 | 2:158,412,542 | C/T | — | benign |
| rs865919740 | 2:158,412,638 | T/C | — | uncertain significance |
| rs753709732 | 2:158,412,659 | C/G | — | uncertain significance |
| rs1322292281 | 2:158,412,686 | G/C | — | uncertain significance |
| rs35529926 | 2:158,412,699 | A/G | — | benign |
| rs55920843 | 2:158,412,701 | T/G | — | benign |
| rs2468364096 | 2:158,412,745 | G/A | — | uncertain significance |
| rs1252270011 | 2:158,412,836 | T/A | — | uncertain significance |
| rs13420239 | 2:158,412,878 | A/G | — | benign |
| rs11679482 | 2:158,416,954 | G/A | intron variant | — |
| rs4389284 | 2:158,423,066 | A/C | — | — |
| rs12614487 | 2:158,434,569 | C/T | intron variant | — |
| rs7601153 | 2:158,447,571 | C/G | intron variant | — |
| rs149447188 | 2:158,449,081 | C/T | intron variant | — |
| rs114245489 | 2:158,485,075 | G/T | — | benign |
| rs777827727 | 2:158,485,136 | T/C | — | likely benign |
| rs1326066633 | 2:158,485,149 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.