ADORA1
adenosine A1 receptor
Summary
The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61731145 | 1:203,097,975 | G/A | — | benign |
| rs1466113622 | 1:203,097,982 | A/G | — | uncertain significance |
| rs145613118 | 1:203,098,086 | G/A | — | likely benign |
| rs61731146 | 1:203,098,126 | G/A | — | conflicting classifications of pathogenicity |
| rs2228079 | 1:203,098,275 | T/G | synonymous variant | — |
| rs764752997 | 1:203,098,298 | A/G | — | uncertain significance |
| rs141877540 | 1:203,102,472 | A/T | intron variant | — |
| rs61025910 | 1:203,107,206 | G/A | — | — |
| rs10920573 | 1:203,108,508 | T/C | downstream gene variant | — |
| rs17511192 | 1:203,119,491 | C/T | intron variant | — |
| rs575762397 | 1:203,125,585 | C/G | — | — |
| rs140250074 | 1:203,127,846 | T/C | intron variant | — |
| rs147165895 | 1:203,131,035 | C/G | intron variant | — |
| rs3766553 | 1:203,133,042 | A/G | downstream gene variant | — |
| rs200347485 | 1:203,134,366 | C/T | — | likely benign |
| rs201201895 | 1:203,134,385 | C/G | — | likely benign |
| rs79599913 | 1:203,134,421 | C/T | — | conflicting classifications of pathogenicity |
| rs201168369 | 1:203,134,435 | G/A | — | uncertain significance |
| rs200223759 | 1:203,134,474 | A/G | — | uncertain significance |
| rs2528207973 | 1:203,134,475 | T/C | — | uncertain significance |
| rs2528208137 | 1:203,134,510 | G/A | — | uncertain significance |
| rs747445335 | 1:203,134,523 | A/G | — | uncertain significance |
| rs769365702 | 1:203,134,529 | G/C | — | uncertain significance |
| rs1436033977 | 1:203,134,540 | C/T | — | uncertain significance |
| rs201926731 | 1:203,134,550 | A/C | — | uncertain significance |
| rs764345398 | 1:203,134,560 | C/T | — | likely benign |
| rs74912377 | 1:203,134,632 | C/T | — | benign |
| rs1033168113 | 1:203,134,681 | A/G | — | uncertain significance |
| rs75070458 | 1:203,134,682 | A/G | — | likely benign |
| rs1427668895 | 1:203,134,744 | G/A | — | uncertain significance |
| rs200703683 | 1:203,134,878 | G/A | — | likely benign |
| rs748346254 | 1:203,134,882 | G/A | — | uncertain significance |
| rs72739545 | 1:203,136,625 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.