AVPR1A
arginine vasopressin receptor 1A
Summary
The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10784339 | 12:63,538,646 | G/A | — | — |
| rs11174811 | 12:63,540,476 | C/A | downstream gene variant | — |
| rs752367784 | 12:63,541,143 | G/A | — | uncertain significance |
| rs778784149 | 12:63,541,182 | G/C | — | uncertain significance |
| rs376412201 | 12:63,541,351 | T/C | — | uncertain significance |
| rs113578517 | 12:63,543,693 | T/G | — | benign |
| rs1868432757 | 12:63,543,755 | G/A | — | uncertain significance |
| rs769082006 | 12:63,543,829 | C/A | — | uncertain significance |
| rs2498926927 | 12:63,543,844 | C/T | — | uncertain significance |
| rs146970048 | 12:63,543,862 | G/A | — | uncertain significance |
| rs138106477 | 12:63,543,864 | C/G | — | benign |
| rs981495614 | 12:63,543,890 | T/A | — | uncertain significance |
| rs1475024151 | 12:63,543,937 | G/T | — | uncertain significance |
| rs771623728 | 12:63,544,031 | T/C | — | uncertain significance |
| rs199684240 | 12:63,544,040 | C/G | — | uncertain significance |
| rs1042615 | 12:63,544,209 | A/G | synonymous variant | benign |
| rs2498927469 | 12:63,544,361 | T/C | — | uncertain significance |
| rs1379943291 | 12:63,544,368 | C/T | — | likely benign |
| rs762174402 | 12:63,544,369 | G/A | — | uncertain significance |
| rs576296040 | 12:63,544,376 | G/C | — | uncertain significance |
| rs2498927537 | 12:63,544,424 | C/T | — | uncertain significance |
| rs1481652349 | 12:63,544,480 | C/A | — | uncertain significance |
| rs779030335 | 12:63,544,484 | C/A | — | uncertain significance |
| rs1592333743 | 12:63,544,496 | G/C | — | uncertain significance |
| rs2498927669 | 12:63,544,500 | G/C | — | uncertain significance |
| rs951546942 | 12:63,544,563 | C/G | — | uncertain significance |
| rs2228154 | 12:63,544,601 | C/A | — | uncertain significance |
| rs3021529 | 12:63,545,680 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.