CACNA1A
calcium voltage-gated channel subunit alpha1 A
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, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
Known Variants2,892 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs186360114 | 19:13,308,885 | A/T | — | likely benign |
| rs141221917 | 19:13,317,583 | G/T | — | uncertain significance |
| rs111240372 | 19:13,317,825 | T/C | — | likely benign |
| rs116023034 | 19:13,317,908 | T/G | — | likely benign |
| rs7254351 | 19:13,317,980 | T/G | — | benign |
| rs1296592145 | 19:13,318,136 | A/G | — | uncertain significance |
| rs1368524598 | 19:13,318,157 | G/A | — | likely benign |
| rs745440661 | 19:13,318,160 | T/C | — | likely benign |
| rs1457620779 | 19:13,318,163 | G/C | — | uncertain significance |
| rs773412436 | 19:13,318,190 | G/T | — | likely benign |
| rs2144488387 | 19:13,318,203 | A/C | — | uncertain significance |
| rs765523382 | 19:13,318,207 | C/T | — | uncertain significance |
| rs539546830 | 19:13,318,208 | G/A | — | likely benign |
| rs758817759 | 19:13,318,212 | G/C | — | uncertain significance |
| rs764648125 | 19:13,318,215 | G/A | — | uncertain significance |
| rs16059 | 19:13,318,217 | G/A | — | benign |
| rs779631503 | 19:13,318,222 | A/G | — | conflicting classifications of pathogenicity |
| rs1239663368 | 19:13,318,224 | C/A | — | uncertain significance |
| rs754738036 | 19:13,318,239 | C/T | — | uncertain significance |
| rs969032815 | 19:13,318,240 | G/A | — | uncertain significance |
| rs748037256 | 19:13,318,244 | G/T | — | uncertain significance |
| rs1199275549 | 19:13,318,248 | C/T | — | uncertain significance |
| rs2512505274 | 19:13,318,254 | G/A | — | uncertain significance |
| rs1171910645 | 19:13,318,257 | G/A | — | uncertain significance |
| rs954720308 | 19:13,318,279 | C/A | — | uncertain significance |
| rs987406696 | 19:13,318,280 | C/T | — | uncertain significance |
| rs16057 | 19:13,318,283 | G/T | — | benign |
| rs1327100600 | 19:13,318,299 | C/T | — | uncertain significance |
| rs1397153104 | 19:13,318,300 | G/A | — | uncertain significance |
| rs2144489208 | 19:13,318,301 | C/T | — | uncertain significance |
| rs770109102 | 19:13,318,304 | G/C | — | likely benign |
| rs763414737 | 19:13,318,320 | G/A | — | likely benign |
| rs533884784 | 19:13,318,321 | C/T | — | conflicting classifications of pathogenicity |
| rs927838078 | 19:13,318,326 | C/T | — | uncertain significance |
| rs765880617 | 19:13,318,330 | C/T | — | uncertain significance |
| rs1235870142 | 19:13,318,332 | G/A | — | uncertain significance |
| rs2054611465 | 19:13,318,338 | G/T | — | uncertain significance |
| rs754573556 | 19:13,318,342 | C/T | — | uncertain significance |
| rs2512505763 | 19:13,318,347 | T/C | — | uncertain significance |
| rs758320568 | 19:13,318,355 | G/T | — | likely benign |
| rs1052515747 | 19:13,318,357 | C/T | — | likely benign |
| rs2512505872 | 19:13,318,366 | C/T | — | uncertain significance |
| rs1414822365 | 19:13,318,373 | G/A | — | likely benign |
| rs555362569 | 19:13,318,374 | C/T | — | likely benign |
| rs1276923109 | 19:13,318,385 | C/T | — | likely benign |
| rs573961089 | 19:13,318,386 | G/A | — | likely benign |
| rs544924244 | 19:13,318,387 | G/C | — | likely benign |
| rs890689183 | 19:13,318,391 | A/G | — | likely benign |
| rs2512506048 | 19:13,318,394 | G/A | — | likely benign |
| rs1488018867 | 19:13,318,397 | C/T | — | likely benign |
| rs1008881855 | 19:13,318,399 | C/A | — | likely pathogenic |
| rs1465011866 | 19:13,318,406 | G/A | — | likely benign |
| rs1568416040 | 19:13,318,408 | C/T | — | uncertain significance |
| rs775829854 | 19:13,318,413 | C/A | — | uncertain significance |
| rs1015330748 | 19:13,318,415 | C/G | — | likely benign |
| rs2512506189 | 19:13,318,429 | G/A | — | uncertain significance |
| rs2512506246 | 19:13,318,438 | G/C | — | uncertain significance |
| rs2054614917 | 19:13,318,442 | C/T | — | uncertain significance |
| rs1218506473 | 19:13,318,445 | G/A | — | likely benign |
| rs973900517 | 19:13,318,451 | C/G | — | uncertain significance |
| rs774776009 | 19:13,318,454 | G/C | — | likely benign |
| rs1280000614 | 19:13,318,458 | A/G | — | uncertain significance |
| rs768129470 | 19:13,318,459 | C/T | — | conflicting classifications of pathogenicity |
| rs987861675 | 19:13,318,483 | G/A | — | uncertain significance |
| rs1175823781 | 19:13,318,488 | C/T | — | uncertain significance |
| rs1452665386 | 19:13,318,497 | C/T | — | uncertain significance |
| rs763992341 | 19:13,318,504 | C/A | — | uncertain significance |
| rs2054617641 | 19:13,318,512 | G/A | — | uncertain significance |
| rs1308219087 | 19:13,318,522 | G/A | — | uncertain significance |
| rs2054617959 | 19:13,318,524 | G/T | — | uncertain significance |
| rs913556946 | 19:13,318,539 | C/T | — | uncertain significance |
| rs757251710 | 19:13,318,545 | T/A | — | uncertain significance |
| rs745912967 | 19:13,318,561 | G/A | — | uncertain significance |
| rs780098532 | 19:13,318,581 | G/A | — | uncertain significance |
| rs1421650967 | 19:13,318,587 | G/A | — | uncertain significance |
| rs1442777428 | 19:13,318,596 | C/T | — | uncertain significance |
| rs932173199 | 19:13,318,598 | G/A | — | conflicting classifications of pathogenicity |
| rs1057521445 | 19:13,318,646 | G/A | — | likely benign |
| rs748579395 | 19:13,318,653 | C/T | — | likely benign |
| rs2054622648 | 19:13,318,667 | C/T | — | likely benign |
| rs772427988 | 19:13,318,670 | C/T | — | likely benign |
| rs1216660737 | 19:13,318,683 | T/C | — | uncertain significance |
| rs1336072997 | 19:13,318,686 | T/C | — | uncertain significance |
| rs1235604329 | 19:13,318,688 | C/T | — | likely benign |
| rs1600075382 | 19:13,318,690 | G/A | — | uncertain significance |
| rs897830115 | 19:13,318,710 | T/A | — | uncertain significance |
| rs2512508461 | 19:13,318,725 | C/T | — | uncertain significance |
| rs758924907 | 19:13,318,726 | C/T | — | conflicting classifications of pathogenicity |
| rs1351010453 | 19:13,318,747 | G/C | — | uncertain significance |
| rs2512508720 | 19:13,318,754 | G/A | — | likely benign |
| rs1600075684 | 19:13,318,763 | T/G | — | likely benign |
| rs1376146668 | 19:13,318,800 | C/T | — | uncertain significance |
| rs762678287 | 19:13,318,807 | G/A | — | uncertain significance |
| rs1392375465 | 19:13,318,809 | C/A | — | uncertain significance |
| rs147221323 | 19:13,318,811 | C/T | — | benign |
| rs2512509161 | 19:13,318,817 | G/C | — | uncertain significance |
| rs1267795318 | 19:13,318,857 | G/A | — | uncertain significance |
| rs2054633316 | 19:13,318,863 | C/T | — | uncertain significance |
| rs751364653 | 19:13,318,866 | C/T | — | likely benign |
| rs757167417 | 19:13,318,873 | C/T | — | likely benign |
Showing 100 of 2,892 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.