OXTR
oxytocin receptor
Summary
The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7632287 | 3:8,791,446 | G/A | upstream gene variant | — |
| rs1042778 | 3:8,794,545 | G/C | — | — |
| rs148736817 | 3:8,794,729 | C/T | — | likely benign |
| rs142282272 | 3:8,794,765 | G/T | — | benign |
| rs762376033 | 3:8,794,767 | G/A | — | uncertain significance |
| rs759031806 | 3:8,794,782 | A/G | — | uncertain significance |
| rs201093607 | 3:8,794,812 | C/T | — | uncertain significance |
| rs143927655 | 3:8,794,818 | C/T | — | benign |
| rs237885 | 3:8,795,543 | T/G | intron variant | — |
| rs11706648 | 3:8,796,547 | A/C | intron variant | — |
| rs237887 | 3:8,797,042 | G/C | — | — |
| rs2268490 | 3:8,797,085 | C/G | — | — |
| rs4686301 | 3:8,798,586 | C/T | regulatory region variant | — |
| rs2268491 | 3:8,800,398 | C/T | intron variant | — |
| rs2268493 | 3:8,800,840 | T/C | intron variant | — |
| rs2268494 | 3:8,802,046 | T/C | — | — |
| rs2254298 | 3:8,802,228 | G/A | regulatory region variant | — |
| rs237889 | 3:8,802,483 | T/C | regulatory region variant | — |
| rs13316193 | 3:8,802,743 | T/A | — | — |
| rs59190448 | 3:8,803,001 | G/A | intron variant | — |
| rs53576 | 3:8,804,371 | G/A | intron variant | — |
| rs237895 | 3:8,807,423 | T/C | intron variant | — |
| rs237897 | 3:8,808,285 | A/G | upstream gene variant | — |
| rs237899 | 3:8,808,515 | G/C | — | — |
| rs1164411475 | 3:8,808,970 | C/T | — | uncertain significance |
| rs2470092729 | 3:8,808,993 | A/T | — | uncertain significance |
| rs1384523315 | 3:8,809,083 | T/C | — | uncertain significance |
| rs200392966 | 3:8,809,123 | C/T | — | uncertain significance |
| rs61740241 | 3:8,809,162 | C/T | — | benign |
| rs765500112 | 3:8,809,169 | G/T | — | likely benign |
| rs237902 | 3:8,809,184 | G/A | synonymous variant | benign |
| rs4686302 | 3:8,809,222 | C/T | missense variant | benign |
| rs771284722 | 3:8,809,231 | C/G | — | uncertain significance |
| rs150746704 | 3:8,809,258 | G/C | — | benign |
| rs2470093767 | 3:8,809,333 | C/A | — | uncertain significance |
| rs762650827 | 3:8,809,336 | C/G | — | uncertain significance |
| rs115324487 | 3:8,809,359 | A/G | — | benign |
| rs182142376 | 3:8,809,364 | C/A | — | likely benign |
| rs1338320549 | 3:8,809,465 | G/T | — | uncertain significance |
| rs201782300 | 3:8,809,475 | C/T | — | uncertain significance |
| rs150938124 | 3:8,809,514 | C/A | — | likely benign |
| rs146243048 | 3:8,809,523 | G/A | — | benign |
| rs200175095 | 3:8,809,576 | C/T | — | uncertain significance |
| rs569235363 | 3:8,809,672 | G/A | — | uncertain significance |
| rs1239366031 | 3:8,809,702 | C/A | — | uncertain significance |
| rs2228485 | 3:8,809,703 | G/A | synonymous variant | — |
| rs202237352 | 3:8,809,715 | C/T | — | likely benign |
| rs370955626 | 3:8,809,794 | C/G | — | uncertain significance |
| rs113718500 | 3:8,809,809 | C/T | — | uncertain significance |
| rs865871442 | 3:8,809,818 | G/A | — | uncertain significance |
| rs237911 | 3:8,810,008 | G/A | regulatory region variant | — |
| rs4564970 | 3:8,810,408 | G/C | regulatory region variant | — |
| rs968389 | 3:8,811,163 | A/G | regulatory region variant | — |
| rs2268498 | 3:8,812,411 | T/A | — | — |
| rs143825102 | 3:8,813,131 | G/T | downstream gene variant | — |
| rs1488467 | 3:8,813,231 | G/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.