GNA14
G protein subunit alpha 14
Summary
This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375737357 | 9:80,038,912 | C/T | — | uncertain significance |
| rs749886105 | 9:80,040,510 | G/C | — | uncertain significance |
| rs200526690 | 9:80,040,538 | C/G | — | uncertain significance |
| rs142760663 | 9:80,040,625 | T/C | — | uncertain significance |
| rs532679687 | 9:80,040,627 | C/T | — | uncertain significance |
| rs377352484 | 9:80,043,918 | G/A | — | uncertain significance |
| rs954588636 | 9:80,043,923 | T/C | — | uncertain significance |
| rs1554685903 | 9:80,043,932 | T/A | — | pathogenic |
| rs2296781 | 9:80,044,056 | G/C | — | — |
| rs61755086 | 9:80,046,281 | G/A | — | benign |
| rs752010673 | 9:80,046,325 | C/T | — | uncertain significance |
| rs758196305 | 9:80,046,346 | G/A | — | uncertain significance |
| rs147763222 | 9:80,049,348 | C/T | — | uncertain significance |
| rs1297597156 | 9:80,049,392 | A/G | — | uncertain significance |
| rs2538382481 | 9:80,049,408 | C/T | — | uncertain significance |
| rs141730632 | 9:80,143,987 | T/C | — | uncertain significance |
| rs771132285 | 9:80,144,036 | C/T | — | uncertain significance |
| rs1837488676 | 9:80,144,061 | T/C | — | uncertain significance |
| rs1837488739 | 9:80,144,062 | T/C | — | uncertain significance |
| rs45466295 | 9:80,144,079 | G/A | — | uncertain significance |
| rs12346870 | 9:80,144,099 | G/A | — | benign |
| rs193008648 | 9:80,244,744 | T/C | intron variant | — |
| rs138686336 | 9:80,262,613 | G/A | — | benign |
| rs749143230 | 9:80,262,622 | T/C | — | uncertain significance |
| rs141591381 | 9:80,262,639 | T/C | — | uncertain significance |
| rs947340795 | 9:80,262,666 | T/G | — | uncertain significance |
| rs1197170791 | 9:80,262,685 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.