CACNG7
calcium voltage-gated channel auxiliary subunit gamma 7
Summary
The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. 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, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1310679798 | 19:54,416,107 | G/C | — | uncertain significance |
| rs1368009098 | 19:54,416,163 | C/G | — | uncertain significance |
| rs781125638 | 19:54,416,165 | C/T | — | uncertain significance |
| rs185024703 | 19:54,416,185 | C/G | — | uncertain significance |
| rs748295737 | 19:54,416,191 | A/G | — | uncertain significance |
| rs1168996008 | 19:54,416,232 | G/T | — | uncertain significance |
| rs778063503 | 19:54,417,756 | C/T | — | uncertain significance |
| rs747198707 | 19:54,417,757 | G/A | — | uncertain significance |
| rs369839062 | 19:54,417,799 | C/T | — | uncertain significance |
| rs866063392 | 19:54,418,715 | G/A | — | uncertain significance |
| rs141527334 | 19:54,423,954 | T/C | intron variant | — |
| rs678916 | 19:54,441,200 | T/G | — | — |
| rs1438016716 | 19:54,445,417 | A/G | — | uncertain significance |
| rs1240074850 | 19:54,445,445 | C/G | — | uncertain significance |
| rs778171763 | 19:54,445,503 | A/G | — | likely pathogenic |
| rs746425603 | 19:54,445,516 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.