CACNB1
calcium voltage-gated channel auxiliary subunit beta 1
Summary
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs523516 | 17:37,331,345 | A/T | regulatory region variant | — |
| rs768078931 | 17:37,331,474 | C/T | — | uncertain significance |
| rs748910980 | 17:37,331,556 | G/A | — | uncertain significance |
| rs1052880399 | 17:37,331,576 | T/C | — | uncertain significance |
| rs577003833 | 17:37,331,600 | C/A | — | uncertain significance |
| rs1231332194 | 17:37,331,641 | G/T | — | uncertain significance |
| rs1007119953 | 17:37,331,643 | C/T | — | uncertain significance |
| rs1443298887 | 17:37,331,652 | C/A | — | uncertain significance |
| rs116613643 | 17:37,331,782 | C/T | — | benign |
| rs542763889 | 17:37,331,812 | G/T | — | likely benign |
| rs115975977 | 17:37,331,851 | G/A | — | benign |
| rs770221856 | 17:37,331,865 | C/T | — | uncertain significance |
| rs626657 | 17:37,332,963 | C/G | — | — |
| rs1280829414 | 17:37,333,647 | T/C | — | uncertain significance |
| rs1365283226 | 17:37,333,701 | T/C | — | uncertain significance |
| rs200893020 | 17:37,333,716 | C/T | — | uncertain significance |
| rs1201187082 | 17:37,333,718 | T/A | — | uncertain significance |
| rs781370846 | 17:37,333,740 | C/T | — | uncertain significance |
| rs1405221929 | 17:37,334,242 | G/T | — | uncertain significance |
| rs72556381 | 17:37,334,267 | C/T | — | likely benign |
| rs801232 | 17:37,334,652 | A/G | — | — |
| rs145326896 | 17:37,340,028 | C/T | — | uncertain significance |
| rs1597699484 | 17:37,340,636 | C/A | — | uncertain significance |
| rs536636143 | 17:37,341,068 | A/G | — | uncertain significance |
| rs777954206 | 17:37,341,104 | G/A | — | uncertain significance |
| rs769916627 | 17:37,341,110 | T/C | — | uncertain significance |
| rs181552596 | 17:37,341,121 | G/T | — | likely benign |
| rs766406540 | 17:37,342,323 | G/A | — | likely benign |
| rs1358292748 | 17:37,342,781 | G/A | — | uncertain significance |
| rs764913364 | 17:37,343,067 | C/T | — | uncertain significance |
| rs2045955419 | 17:37,343,158 | C/T | — | uncertain significance |
| rs58242301 | 17:37,345,669 | T/A | intron variant | — |
| rs151101328 | 17:37,347,779 | G/C | — | uncertain significance |
| rs2509299122 | 17:37,353,679 | C/T | — | uncertain significance |
| rs199687687 | 17:37,353,686 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.