GUCY1B1
guanylate cyclase 1 soluble subunit beta 1
Summary
This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1477147477 | 4:156,680,996 | G/A | — | uncertain significance |
| rs2530936632 | 4:156,698,750 | A/G | — | uncertain significance |
| rs369391839 | 4:156,715,132 | G/A | — | uncertain significance |
| rs1739365451 | 4:156,715,153 | G/T | — | uncertain significance |
| rs765293059 | 4:156,716,556 | A/T | — | uncertain significance |
| rs201359483 | 4:156,717,586 | A/G | — | uncertain significance |
| rs182216696 | 4:156,718,657 | C/T | intron variant | — |
| rs367917156 | 4:156,723,613 | C/T | — | uncertain significance |
| rs368872671 | 4:156,723,661 | A/G | — | uncertain significance |
| rs377714673 | 4:156,724,786 | T/C | — | uncertain significance |
| rs1740109515 | 4:156,724,821 | G/A | — | uncertain significance |
| rs371047617 | 4:156,724,842 | C/G | — | uncertain significance |
| rs368196119 | 4:156,724,848 | A/C | — | uncertain significance |
| rs2531052235 | 4:156,724,887 | C/G | — | uncertain significance |
| rs2531052400 | 4:156,724,905 | G/A | — | uncertain significance |
| rs544545783 | 4:156,726,255 | A/T | — | uncertain significance |
| rs764950249 | 4:156,726,276 | T/G | — | uncertain significance |
| rs376500529 | 4:156,726,377 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.