GNAQ
G protein subunit alpha q
Summary
This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373212005 | 9:80,336,290 | G/A | — | likely benign |
| rs61736823 | 9:80,336,302 | A/G | — | likely benign |
| rs374303316 | 9:80,336,422 | C/G | — | uncertain significance |
| rs762604216 | 9:80,336,434 | C/T | — | likely benign |
| rs886255565 | 9:80,343,457 | G/T | — | uncertain significance |
| rs144682617 | 9:80,343,554 | A/G | — | likely benign |
| rs541676373 | 9:80,343,588 | A/G | — | likely benign |
| rs77893395 | 9:80,381,496 | G/C | — | — |
| rs1328530 | 9:80,409,138 | C/G | — | benign |
| rs1328529 | 9:80,409,345 | G/A | — | benign |
| rs1826626515 | 9:80,409,349 | T/C | — | uncertain significance |
| rs2118442648 | 9:80,409,378 | C/A | — | uncertain significance |
| rs1587919422 | 9:80,409,409 | A/G | — | likely benign |
| rs2118444312 | 9:80,409,487 | T/A | — | pathogenic |
| rs121913492 | 9:80,409,488 | T/C | missense variant | pathogenic |
| rs4361824 | 9:80,409,812 | G/A | — | benign |
| rs397514698 | 9:80,412,493 | C/T | missense variant | pathogenic |
| rs1826677470 | 9:80,412,494 | G/C | — | pathogenic |
| rs781681141 | 9:80,412,516 | C/T | — | likely benign |
| rs200924131 | 9:80,430,552 | T/G | — | uncertain significance |
| rs368906365 | 9:80,430,606 | A/G | — | likely benign |
| rs192927818 | 9:80,430,620 | C/T | — | likely benign |
| rs1564118970 | 9:80,430,678 | T/C | — | likely benign |
| rs370933664 | 9:80,430,699 | A/G | — | likely benign |
| rs2289121 | 9:80,430,802 | A/C | — | benign |
| rs116434758 | 9:80,471,418 | T/C | intron variant | — |
| rs4744854 | 9:80,498,559 | G/C | intron variant | — |
| rs2537824125 | 9:80,537,131 | G/A | — | likely benign |
| rs201698777 | 9:80,537,143 | C/G | — | benign |
| rs746699009 | 9:80,537,168 | T/C | — | uncertain significance |
| rs138155647 | 9:80,537,236 | C/T | — | benign |
| rs2118276763 | 9:80,537,255 | C/A | — | pathogenic |
| rs11145617 | 9:80,550,931 | G/T | — | — |
| rs146583310 | 9:80,583,488 | G/A | intron variant | — |
| rs7470279 | 9:80,607,789 | A/T | intron variant | — |
| rs549576356 | 9:80,646,008 | G/A | — | likely benign |
| rs72466454 | 9:80,646,533 | C/T | — | benign |
| rs72466453 | 9:80,646,538 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.