GNAI2
G protein subunit alpha i2
Summary
The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62260798 | 3:50,274,278 | C/G | — | — |
| rs114670061 | 3:50,279,697 | C/T | downstream gene variant | — |
| rs10510755 | 3:50,281,168 | C/T | regulatory region variant | — |
| rs114032302 | 3:50,285,633 | C/T | intron variant | — |
| rs138495790 | 3:50,289,838 | C/T | — | likely benign |
| rs112497464 | 3:50,289,969 | C/T | — | conflicting classifications of pathogenicity |
| rs146259462 | 3:50,290,494 | C/T | — | likely benign |
| rs782279425 | 3:50,290,538 | G/A | — | uncertain significance |
| rs181394846 | 3:50,293,392 | C/T | upstream gene variant | — |
| rs137853226 | 3:50,293,694 | C/T | missense variant | pathogenic |
| rs137853227 | 3:50,293,695 | G/A | missense variant | pathogenic |
| rs2470733622 | 3:50,293,703 | A/C | — | likely pathogenic |
| rs137853228 | 3:50,294,161 | T/A | missense variant | pathogenic |
| rs782530894 | 3:50,294,493 | C/A | — | uncertain significance |
| rs139197363 | 3:50,294,494 | C/T | — | likely benign |
| rs143863348 | 3:50,294,933 | G/A | — | uncertain significance |
| rs587718685 | 3:50,295,068 | C/T | — | likely benign |
| rs2470739358 | 3:50,295,111 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.