ACVRL1

activin A receptor like type 1

Summary

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

Known Variants667 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1002184603	12:52,301,253	G/C	—	benign
rs573855752	12:52,301,283	C/G	—	likely benign
rs886049606	12:52,301,291	A/C	—	uncertain significance
rs1465380790	12:52,301,317	G/C	—	uncertain significance
rs886049607	12:52,301,356	G/A	—	uncertain significance
rs886049608	12:52,301,427	G/A	—	uncertain significance
rs573048639	12:52,301,433	G/A	—	conflicting classifications of pathogenicity
rs190953189	12:52,301,439	C/G	—	benign
rs1700159	12:52,305,786	C/T	—	benign
rs1690215	12:52,305,789	G/A	—	benign
rs2277381	12:52,306,027	C/G	—	benign
rs563686436	12:52,306,195	C/T	—	uncertain significance
rs2277382	12:52,306,221	C/T	regulatory region variant	benign
rs201412945	12:52,306,237	C/T	—	likely benign
rs753902476	12:52,306,255	G/T	—	uncertain significance
rs373062714	12:52,306,263	C/T	—	uncertain significance
rs779236098	12:52,306,267	G/A	—	conflicting classifications of pathogenicity
rs778246850	12:52,306,276	C/G	—	likely benign
rs776283937	12:52,306,282	A/G	—	likely benign
rs1085307404	12:52,306,295	—	—	pathogenic
rs1472602374	12:52,306,300	G/C	—	likely benign
rs1555152345	12:52,306,316	C/T	—	pathogenic
rs763785885	12:52,306,320	G/A	—	likely pathogenic
rs200221603	12:52,306,326	A/T	—	benign
rs2540157215	12:52,306,333	G/A	—	likely benign
rs706812	12:52,306,341	A/G	—	benign
rs35960167	12:52,306,687	C/G	—	benign
rs114852790	12:52,306,814	G/T	—	likely benign
rs2540158063	12:52,306,874	G/A	—	likely benign
rs762796409	12:52,306,890	T/C	—	likely benign
rs2540158136	12:52,306,894	A/T	—	pathogenic
rs199542304	12:52,306,898	C/T	—	likely benign
rs774167132	12:52,306,899	G/A	—	likely benign
rs761650726	12:52,306,903	C/T	—	uncertain significance
rs139486404	12:52,306,908	C/T	—	likely benign
rs149664056	12:52,306,909	C/T	—	likely benign
rs373401329	12:52,306,911	G/A	—	likely benign
rs2540158241	12:52,306,920	C/G	—	likely benign
rs2540158250	12:52,306,921	T/C	—	pathogenic
rs2540158265	12:52,306,922	G/A	—	pathogenic
rs1226848374	12:52,306,923	C/A	—	pathogenic
rs376537508	12:52,306,925	C/T	—	uncertain significance
rs2139064443	12:52,306,927	T/C	—	pathogenic
rs2540158303	12:52,306,928	G/A	—	likely pathogenic
rs781586192	12:52,306,932	G/A	—	likely benign
rs2540158317	12:52,306,933	A/T	—	uncertain significance
rs1257219446	12:52,306,934	G/A	—	uncertain significance
rs2540158328	12:52,306,935	C/T	—	likely benign
rs745507845	12:52,306,941	T/C	—	likely benign
rs2139064528	12:52,306,942	T/G	—	pathogenic
rs1184716348	12:52,306,943	G/A	—	likely pathogenic
rs1555152454	12:52,306,958	G/C	—	likely pathogenic
rs768072967	12:52,306,960	C/T	—	uncertain significance
rs774389618	12:52,306,961	G/C	—	pathogenic
rs2139064757	12:52,306,963	G/A	—	pathogenic
rs267606632	12:52,306,964	G/A	missense variant	pathogenic
rs267606633	12:52,306,966	G/C	—	not provided
rs1555152468	12:52,306,969	T/C	—	likely pathogenic
rs121909285	12:52,306,971	G/T	missense variant	pathogenic
rs2139064874	12:52,306,972	T/G	—	likely pathogenic
rs863223409	12:52,306,973	G/A	missense variant	pathogenic
rs1131691346	12:52,306,975	A/C	—	likely pathogenic
rs2540158554	12:52,306,979	T/C	—	conflicting classifications of pathogenicity
rs1241287373	12:52,307,001	G/A	—	likely benign
rs2540158640	12:52,307,003	G/A	—	uncertain significance
rs1488803418	12:52,307,004	G/C	—	uncertain significance
rs1592221728	12:52,307,011	C/T	—	pathogenic
rs943040923	12:52,307,012	A/C	—	uncertain significance
rs1427299751	12:52,307,014	G/T	—	pathogenic
rs1480110873	12:52,307,017	C/T	—	uncertain significance
rs1085307405	12:52,307,020	C/T	missense variant	pathogenic
rs863223414	12:52,307,021	G/A	missense variant	pathogenic
rs2139065261	12:52,307,026	T/C	—	pathogenic
rs1318118188	12:52,307,027	G/T	—	pathogenic
rs56080682	12:52,307,028	C/A	—	pathogenic
rs1439294840	12:52,307,029	G/A	—	conflicting classifications of pathogenicity
rs1210200256	12:52,307,038	C/G	—	uncertain significance
rs777633148	12:52,307,043	G/A	—	likely benign
rs750720985	12:52,307,044	G/T	—	pathogenic
rs1940737426	12:52,307,046	G/C	—	uncertain significance
rs2540158883	12:52,307,050	T/C	—	likely pathogenic
rs1221689111	12:52,307,052	C/G	—	pathogenic
rs2540158927	12:52,307,056	G/A	—	likely pathogenic
rs1283365095	12:52,307,057	G/A	—	conflicting classifications of pathogenicity
rs756447582	12:52,307,059	C/T	—	uncertain significance
rs748925030	12:52,307,062	C/T	—	uncertain significance
rs754476526	12:52,307,067	C/T	—	likely benign
rs200960874	12:52,307,068	G/A	—	uncertain significance
rs1940738967	12:52,307,072	T/G	—	uncertain significance
rs373779426	12:52,307,074	G/A	—	conflicting classifications of pathogenicity
rs1430932447	12:52,307,080	C/G	—	uncertain significance
rs1555152518	12:52,307,083	T/G	—	uncertain significance
rs1940739692	12:52,307,084	A/G	—	conflicting classifications of pathogenicity
rs775754117	12:52,307,085	C/G	—	pathogenic
rs1555152520	12:52,307,086	T/C	—	pathogenic
rs1060503234	12:52,307,087	G/T	—	likely pathogenic
rs1592221930	12:52,307,088	C/G	—	likely pathogenic
rs863223410	12:52,307,090	G/T	missense variant	pathogenic
rs556168617	12:52,307,091	C/A	—	pathogenic
rs764145478	12:52,307,092	G/A	—	uncertain significance

Showing 100 of 667 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.