CACNG6
calcium voltage-gated channel auxiliary subunit gamma 6
Summary
Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2069476315 | 19:54,496,135 | A/T | — | uncertain significance |
| rs771562119 | 19:54,496,139 | G/C | — | uncertain significance |
| rs2514670263 | 19:54,496,148 | T/C | — | uncertain significance |
| rs759591468 | 19:54,496,158 | A/C | — | uncertain significance |
| rs1434492187 | 19:54,496,169 | G/A | — | uncertain significance |
| rs2145950931 | 19:54,496,181 | C/T | — | uncertain significance |
| rs780619316 | 19:54,496,204 | G/C | — | uncertain significance |
| rs1275790837 | 19:54,496,358 | G/A | — | uncertain significance |
| rs2514671213 | 19:54,496,375 | G/C | — | uncertain significance |
| rs375730739 | 19:54,496,393 | A/G | — | uncertain significance |
| rs1363538160 | 19:54,496,399 | C/T | — | uncertain significance |
| rs570359364 | 19:54,497,612 | T/C | — | — |
| rs77373154 | 19:54,498,486 | C/T | intron variant | — |
| rs1159450845 | 19:54,501,508 | A/G | — | uncertain significance |
| rs113933127 | 19:54,501,541 | G/A | — | likely benign |
| rs556512677 | 19:54,501,647 | C/T | — | — |
| rs776728706 | 19:54,502,953 | T/C | — | uncertain significance |
| rs202066966 | 19:54,502,954 | G/A | — | uncertain significance |
| rs192808 | 19:54,510,717 | A/G | intron variant | — |
| rs2069720233 | 19:54,515,211 | T/A | — | uncertain significance |
| rs2514692364 | 19:54,515,213 | C/G | — | uncertain significance |
| rs369729281 | 19:54,515,286 | C/T | — | uncertain significance |
| rs1209217743 | 19:54,515,366 | G/A | — | uncertain significance |
| rs2514692919 | 19:54,515,369 | T/A | — | uncertain significance |
| rs778136049 | 19:54,515,388 | T/G | — | uncertain significance |
| rs370862252 | 19:54,515,439 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.