CACNA1E

calcium voltage-gated channel subunit alpha1 E

Summary

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These 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, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

Known Variants1,761 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs368884688	1:181,315,526	G/A	—	—
rs2332267	1:181,426,910	C/T	intron variant	—
rs182525961	1:181,452,346	G/C	—	likely benign
rs189902582	1:181,452,603	C/T	—	likely benign
rs111830180	1:181,452,643	T/C	—	likely benign
rs769614151	1:181,452,887	C/T	—	uncertain significance
rs1228809248	1:181,452,892	C/G	—	uncertain significance
rs1663514169	1:181,452,894	G/A	—	uncertain significance
rs751662861	1:181,452,908	G/T	—	likely benign
rs767620162	1:181,452,912	G/T	—	uncertain significance
rs1464879107	1:181,452,913	G/A	—	likely benign
rs1189578549	1:181,452,916	A/G	—	likely benign
rs1663517104	1:181,452,919	G/A	—	likely benign
rs376471584	1:181,452,923	G/A	—	uncertain significance
rs780589733	1:181,452,930	G/A	—	conflicting classifications of pathogenicity
rs1379505181	1:181,452,933	A/G	—	uncertain significance
rs758128368	1:181,452,936	C/G	—	uncertain significance
rs370950694	1:181,452,937	G/A	—	likely benign
rs2526274758	1:181,452,940	C/A	—	uncertain significance
rs1435805007	1:181,452,949	G/A	—	likely benign
rs766436031	1:181,452,955	G/T	—	benign
rs1405275408	1:181,452,963	C/T	—	uncertain significance
rs1412172036	1:181,452,967	C/G	—	likely benign
rs1013161252	1:181,452,968	G/T	—	uncertain significance
rs780719691	1:181,452,972	C/T	—	likely benign
rs745851260	1:181,452,973	G/A	—	likely benign
rs1663529063	1:181,452,978	C/T	—	likely benign
rs769667152	1:181,452,979	G/A	—	likely benign
rs2102468518	1:181,452,981	G/C	—	uncertain significance
rs749016459	1:181,452,982	G/A	—	likely benign
rs2526275809	1:181,452,984	A/G	—	uncertain significance
rs1216894151	1:181,452,988	G/A	—	likely benign
rs1299132420	1:181,452,992	G/A	—	uncertain significance
rs971589755	1:181,452,993	C/T	—	likely benign
rs1257068722	1:181,452,994	C/T	—	likely benign
rs373699388	1:181,452,997	C/T	—	likely benign
rs773295315	1:181,453,002	A/C	—	conflicting classifications of pathogenicity
rs761296841	1:181,453,006	G/A	—	likely benign
rs1383093652	1:181,453,020	C/T	—	uncertain significance
rs1357386518	1:181,453,021	G/T	—	likely benign
rs1446954006	1:181,453,023	G/A	—	benign
rs1663536108	1:181,453,028	A/G	—	uncertain significance
rs766926616	1:181,453,036	G/C	—	uncertain significance
rs2526277085	1:181,453,038	A/T	—	uncertain significance
rs1224971273	1:181,453,044	C/G	—	uncertain significance
rs754271529	1:181,453,045	C/A	—	likely benign
rs755455773	1:181,453,046	A/G	—	uncertain significance
rs370195946	1:181,453,047	T/C	—	likely benign
rs977045555	1:181,453,050	C/T	—	benign
rs374873667	1:181,453,051	C/T	—	likely benign
rs535592986	1:181,453,056	G/A	—	conflicting classifications of pathogenicity
rs2102469173	1:181,453,060	G/T	—	uncertain significance
rs372445856	1:181,453,063	C/T	—	benign
rs1179049018	1:181,453,067	T/C	—	likely benign
rs2526277920	1:181,453,068	T/G	—	uncertain significance
rs1571981561	1:181,453,072	C/G	—	likely benign
rs749209780	1:181,453,075	C/G	—	likely benign
rs1429687440	1:181,453,076	A/T	—	uncertain significance
rs768401805	1:181,453,077	A/G	—	benign
rs180688979	1:181,453,084	C/T	—	likely benign
rs2102469401	1:181,453,087	G/C	—	likely benign
rs772298538	1:181,453,088	T/C	—	uncertain significance
rs1366077835	1:181,453,096	C/G	—	uncertain significance
rs1219232478	1:181,453,098	G/A	—	uncertain significance
rs934695983	1:181,453,100	G/A	—	uncertain significance
rs766557860	1:181,453,109	A/G	—	uncertain significance
rs1663547680	1:181,453,111	T/G	—	uncertain significance
rs2102469602	1:181,453,112	G/C	—	uncertain significance
rs777347120	1:181,453,121	T/C	—	conflicting classifications of pathogenicity
rs945252835	1:181,453,126	C/G	—	likely benign
rs2102469769	1:181,453,141	T/C	—	likely benign
rs2526279683	1:181,453,144	G/T	—	uncertain significance
rs1663550401	1:181,453,145	C/T	—	conflicting classifications of pathogenicity
rs1663550766	1:181,453,157	T/C	—	likely benign
rs749948764	1:181,453,162	C/T	—	likely benign
rs755677288	1:181,453,165	C/T	—	likely benign
rs1663552781	1:181,453,166	A/G	—	likely benign
rs149824190	1:181,479,488	A/C	—	likely benign
rs1227008710	1:181,479,595	T/G	—	likely benign
rs1364499669	1:181,479,597	A/C	—	likely benign
rs529298711	1:181,479,602	C/T	—	likely benign
rs368533867	1:181,479,603	G/T	—	likely benign
rs763314696	1:181,479,606	T/A	—	likely benign
rs2102618150	1:181,479,607	T/G	—	likely benign
rs1373504354	1:181,479,612	C/T	—	uncertain significance
rs2526606414	1:181,479,624	A/G	—	uncertain significance
rs1161024941	1:181,479,626	A/G	—	likely benign
rs372638168	1:181,479,636	C/T	—	uncertain significance
rs2526606783	1:181,479,652	C/T	—	likely benign
rs760287778	1:181,479,658	C/T	—	conflicting classifications of pathogenicity
rs777228630	1:181,479,668	C/T	—	likely benign
rs753350389	1:181,479,670	G/A	—	likely benign
rs1030090563	1:181,479,682	T/G	—	likely benign
rs1476641632	1:181,479,689	G/A	—	uncertain significance
rs1558070859	1:181,479,694	C/T	—	likely benign
rs565318461	1:181,479,700	C/A	—	likely benign
rs2526607759	1:181,479,701	C/G	—	uncertain significance
rs2102618557	1:181,479,710	C/T	—	uncertain significance
rs369308237	1:181,479,711	G/A	—	likely benign
rs2526607998	1:181,479,715	A/T	—	uncertain significance

Showing 100 of 1,761 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.