CACNA1D

calcium voltage-gated channel subunit alpha1 D

Summary

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants1,735 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs312479	3:53,529,013	A/T	—	benign
rs312480	3:53,529,140	T/C	5 prime UTR variant	benign
rs2471494271	3:53,529,198	T/C	—	uncertain significance
rs1362047729	3:53,529,215	A/G	—	uncertain significance
rs2471494554	3:53,529,229	T/C	—	likely benign
rs766424529	3:53,529,233	C/T	—	uncertain significance
rs776581643	3:53,529,234	G/A	—	uncertain significance
rs1161880837	3:53,529,235	G/T	—	likely benign
rs760088044	3:53,529,240	A/G	—	uncertain significance
rs201981216	3:53,529,253	C/A	—	uncertain significance
rs2090293548	3:53,529,255	C/G	—	uncertain significance
rs750024591	3:53,529,270	C/T	—	likely benign
rs1209015472	3:53,529,271	A/G	—	likely benign
rs2471494817	3:53,529,273	A/T	—	likely benign
rs1310164307	3:53,529,276	C/T	—	likely benign
rs755775426	3:53,529,277	C/T	—	likely benign
rs201599838	3:53,529,278	G/A	—	likely benign
rs766003838	3:53,531,168	C/T	—	likely benign
rs192959416	3:53,531,171	C/T	—	likely benign
rs917022424	3:53,531,182	C/G	—	uncertain significance
rs150067408	3:53,531,183	A/G	—	likely benign
rs1415040812	3:53,531,185	A/G	—	uncertain significance
rs1475120903	3:53,531,193	A/G	—	uncertain significance
rs2090388068	3:53,531,200	C/G	—	uncertain significance
rs1431557212	3:53,531,212	T/C	—	uncertain significance
rs2471508346	3:53,531,216	T/C	—	likely benign
rs752623993	3:53,531,224	G/A	—	uncertain significance
rs2107069325	3:53,531,238	C/T	—	uncertain significance
rs758415159	3:53,531,239	C/T	—	uncertain significance
rs746863213	3:53,531,240	G/A	—	likely benign
rs2471508665	3:53,531,241	A/C	—	uncertain significance
rs377363390	3:53,531,243	T/C	—	likely benign
rs888119455	3:53,531,259	G/C	—	uncertain significance
rs935163999	3:53,531,260	T/C	—	uncertain significance
rs1282404129	3:53,531,261	C/T	—	likely benign
rs2107070138	3:53,531,277	G/C	—	uncertain significance
rs774682333	3:53,531,279	A/T	—	likely benign
rs1559750458	3:53,531,282	C/T	—	likely benign
rs1471359438	3:53,531,283	G/A	—	uncertain significance
rs2090391448	3:53,531,290	C/T	—	uncertain significance
rs767957783	3:53,531,294	A/G	—	likely benign
rs2471509327	3:53,531,297	G/A	—	likely benign
rs2107070651	3:53,531,302	A/G	—	uncertain significance
rs2471509427	3:53,531,306	T/C	—	likely benign
rs1163865429	3:53,531,309	C/T	—	likely benign
rs575300482	3:53,531,316	A/G	—	uncertain significance
rs2471509617	3:53,531,323	C/T	—	uncertain significance
rs2471509694	3:53,531,329	C/T	—	uncertain significance
rs2471509725	3:53,531,331	C/G	—	uncertain significance
rs140749530	3:53,531,333	C/T	—	likely benign
rs2107071210	3:53,531,339	T/C	—	likely benign
rs147916220	3:53,531,346	T/A	—	uncertain significance
rs781058978	3:53,531,348	T/G	—	likely benign
rs2471510067	3:53,531,353	C/G	—	uncertain significance
rs914971602	3:53,531,364	C/T	—	uncertain significance
rs2471510342	3:53,531,373	T/C	—	uncertain significance
rs28365112	3:53,531,375	C/T	—	likely benign
rs1039308287	3:53,531,376	G/A	—	uncertain significance
rs899497986	3:53,531,383	G/A	—	uncertain significance
rs1386776082	3:53,531,390	A/G	—	likely benign
rs2107071866	3:53,531,391	C/T	—	uncertain significance
rs2471510759	3:53,531,399	C/T	—	likely benign
rs769128755	3:53,531,401	C/T	—	uncertain significance
rs933683401	3:53,531,402	G/A	—	likely benign
rs774878323	3:53,531,404	C/T	—	uncertain significance
rs28365111	3:53,531,405	C/T	—	likely benign
rs2471510975	3:53,531,409	A/G	—	uncertain significance
rs772267259	3:53,531,412	C/A	—	likely benign
rs1453153869	3:53,531,413	G/A	—	uncertain significance
rs2471511194	3:53,531,418	G/A	—	uncertain significance
rs564124151	3:53,531,423	C/T	—	likely benign
rs533046755	3:53,531,424	G/A	—	uncertain significance
rs775119327	3:53,531,441	A/G	—	likely benign
rs762596454	3:53,531,446	A/G	—	uncertain significance
rs2471511578	3:53,531,450	C/T	—	likely benign
rs1004362019	3:53,531,464	C/G	—	uncertain significance
rs776373174	3:53,531,473	G/A	—	uncertain significance
rs1259925073	3:53,531,475	A/G	—	uncertain significance
rs1442319843	3:53,531,480	G/A	—	likely benign
rs368995943	3:53,531,483	A/C	—	uncertain significance
rs751400848	3:53,531,486	G/C	—	uncertain significance
rs757227559	3:53,531,489	G/A	—	uncertain significance
rs2471512059	3:53,531,498	T/C	—	likely benign
rs1399546899	3:53,531,500	T/C	—	likely benign
rs185674174	3:53,531,501	T/G	—	likely benign
rs1387485248	3:53,535,629	C/T	—	likely benign
rs2471540329	3:53,535,631	C/A	—	likely benign
rs2107129292	3:53,535,637	T/G	—	likely benign
rs2471540472	3:53,535,644	C/T	—	uncertain significance
rs1428275832	3:53,535,652	A/G	—	uncertain significance
rs2471540590	3:53,535,655	T/C	—	uncertain significance
rs2090609467	3:53,535,680	A/G	—	uncertain significance
rs2471540849	3:53,535,686	T/C	—	uncertain significance
rs373329119	3:53,535,697	A/G	—	likely benign
rs2090609959	3:53,535,705	C/T	—	likely benign
rs2090610270	3:53,535,712	C/T	—	uncertain significance
rs876657433	3:53,535,714	T/C	—	likely benign
rs6805302	3:53,535,723	T/C	—	likely benign
rs1017382807	3:53,535,726	T/A	—	likely benign
rs2471541311	3:53,535,734	C/T	—	uncertain significance

Showing 100 of 1,735 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.