CACNG2
calcium voltage-gated channel auxiliary subunit gamma 2
Summary
The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1273987415 | 22:36,960,414 | C/G | — | uncertain significance |
| rs1310263381 | 22:36,960,426 | G/C | — | uncertain significance |
| rs2518213502 | 22:36,960,505 | T/C | — | uncertain significance |
| rs1935090362 | 22:36,960,511 | T/A | — | uncertain significance |
| rs759983832 | 22:36,960,555 | G/A | — | uncertain significance |
| rs141608078 | 22:36,960,611 | G/T | — | likely benign |
| rs1250674878 | 22:36,960,687 | C/G | — | uncertain significance |
| rs758357916 | 22:36,960,701 | G/C | — | uncertain significance |
| rs970675754 | 22:36,960,710 | G/A | — | likely benign |
| rs146183978 | 22:36,960,712 | C/T | — | uncertain significance |
| rs139052540 | 22:36,960,730 | C/T | — | uncertain significance |
| rs754196562 | 22:36,960,741 | G/A | — | uncertain significance |
| rs915061917 | 22:36,960,781 | C/T | — | uncertain significance |
| rs149442040 | 22:36,960,791 | G/A | — | likely benign |
| rs1172485356 | 22:36,960,794 | C/A | — | uncertain significance |
| rs751747375 | 22:36,960,821 | C/A | — | likely benign |
| rs1555892196 | 22:36,960,829 | A/G | — | uncertain significance |
| rs1164294842 | 22:36,960,870 | C/T | — | uncertain significance |
| rs944342384 | 22:36,960,887 | G/A | — | likely benign |
| rs1935100374 | 22:36,960,922 | T/C | — | uncertain significance |
| rs797045426 | 22:36,960,940 | G/T | — | likely benign |
| rs2145905176 | 22:36,962,399 | C/T | — | uncertain significance |
| rs1935124757 | 22:36,962,409 | C/G | — | no classifications from unflagged records |
| rs1021135800 | 22:36,962,460 | C/T | — | uncertain significance |
| rs2517667051 | 22:36,962,484 | C/A | — | uncertain significance |
| rs372818937 | 22:36,962,523 | T/A | — | uncertain significance |
| rs752545450 | 22:36,962,530 | C/T | — | likely benign |
| rs1935129350 | 22:36,962,538 | C/A | — | uncertain significance |
| rs370803277 | 22:36,983,528 | T/G | — | uncertain significance |
| rs571563795 | 22:36,983,579 | C/A | — | benign |
| rs146357556 | 22:36,983,607 | G/T | — | likely benign |
| rs41304667 | 22:37,033,412 | T/C | intron variant | — |
| rs9610560 | 22:37,064,378 | A/G | intron variant | — |
| rs2284017 | 22:37,096,927 | T/G | — | — |
| rs2284018 | 22:37,097,564 | C/G | — | — |
| rs2517782249 | 22:37,098,432 | A/G | — | uncertain significance |
| rs768541051 | 22:37,098,486 | T/G | — | uncertain significance |
| rs767439623 | 22:37,098,517 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.