GUCY1A1

guanylate cyclase 1 soluble subunit alpha 1

Summary

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Known Variants97 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1114481454:156,588,978C/Aregulatory region variant—
rs131319304:156,614,184C/A——
rs68390224:156,615,404C/Tintron variant—
rs76883234:156,616,621A/Gintron variant—
rs3695630144:156,618,031G/A—likely benign
rs68540984:156,618,047A/C—uncertain significance
rs21267403674:156,618,055A/G—likely benign
rs3863523154:156,618,088T/A—uncertain significance
rs21706464:156,618,092G/A—benign
rs7766009174:156,618,101G/A—uncertain significance
rs7477703774:156,618,112G/T—uncertain significance
rs1473152274:156,618,127C/T—likely benign
rs25303057524:156,618,146A/G—uncertain significance
rs2017189824:156,618,148C/T—likely benign
rs617369974:156,618,189A/C—benign
rs1438624314:156,618,215C/T—uncertain significance
rs7739407884:156,618,216G/A—uncertain significance
rs2012150344:156,618,283G/A—likely benign
rs2004524064:156,618,294A/T—benign
rs7509632444:156,625,097A/C—uncertain significance
rs7537266764:156,625,100T/C—uncertain significance
rs349148324:156,626,078G/Aintron variant—
rs7713257404:156,629,408A/C—uncertain significance
rs758326284:156,629,436A/G—likely benign
rs17320761004:156,629,463T/A—likely benign
rs7626666344:156,631,682A/G—likely benign
rs3688169704:156,631,703T/C—uncertain significance
rs7511606464:156,631,707G/A—likely benign
rs25304818434:156,631,708G/T—uncertain significance
rs169989664:156,631,842T/C—benign
rs7812768844:156,631,843T/G—uncertain significance
rs7741810264:156,631,862G/A—likely benign
rs2011857264:156,631,865G/C—likely benign
rs7516878394:156,631,917A/G—likely benign
rs1386874244:156,631,947C/T—conflicting classifications of pathogenicity
rs7466384274:156,631,966G/A—uncertain significance
rs7693622844:156,631,990G/A—uncertain significance
rs1996458354:156,632,003C/T—likely benign
rs3736804244:156,632,037C/G—uncertain significance
rs25304907734:156,632,076G/C—uncertain significance
rs25304913314:156,632,099G/A—uncertain significance
rs1485295624:156,632,139G/A—likely benign
rs7774456464:156,632,200G/T—uncertain significance
rs7618970784:156,632,252G/A—uncertain significance
rs7463534814:156,632,348T/C—uncertain significance
rs5877773214:156,632,362C/Tstop gainedpathogenic
rs119446734:156,632,391G/A—benign
rs5877773204:156,632,404G/Tsplice region variantpathogenic
rs3686124814:156,632,423A/G—benign
rs3700942634:156,634,236C/A—likely benign
rs25305263354:156,634,265G/A—uncertain significance
rs5359963874:156,634,287A/C—uncertain significance
rs3720814934:156,634,298A/G—uncertain significance
rs5877773224:156,634,333——pathogenic
rs3774428064:156,634,350G/A—uncertain significance
rs3731823784:156,634,421C/T—pathogenic
rs1999769144:156,634,446G/C—uncertain significance
rs25305316294:156,634,458T/C—uncertain significance
rs1434726644:156,634,600T/C—likely benign
rs25305355474:156,634,637G/A—uncertain significance
rs5660481964:156,634,651G/A—likely benign
rs12888247794:156,634,685G/A—uncertain significance
rs7544121724:156,634,697C/T—uncertain significance
rs3692153534:156,634,698G/A—uncertain significance
rs1448010364:156,634,703G/A—uncertain significance
rs7517011144:156,634,713G/A—pathogenic
rs76923874:156,635,309G/Aintron variantbenign
rs37965874:156,638,073C/Gintron variant—
rs25305819494:156,638,331C/T—likely benign
rs3733625604:156,638,338G/A—uncertain significance
rs3766562134:156,638,359G/A—uncertain significance
rs25305831664:156,638,381A/G—uncertain significance
rs626365994:156,638,388G/A—benign
rs7466404494:156,638,425G/A—uncertain significance
rs1420838004:156,638,467A/T—likely benign
rs726891474:156,639,888G/Tintron variant—
rs37965824:156,642,800T/Cintron variant—
rs23065554:156,643,176T/A—benign
rs23065544:156,643,183C/A—benign
rs5467179154:156,643,207C/T—likely benign
rs3770388614:156,643,250C/T—uncertain significance
rs10325129224:156,643,272A/G—uncertain significance
rs2009277234:156,643,299C/T—uncertain significance
rs2019130284:156,643,302G/A—uncertain significance
rs5322565654:156,643,321C/T—likely benign
rs10072896994:156,643,336A/G—likely benign
rs131395714:156,645,513C/Aintron variant—
rs117246474:156,646,340T/C——
rs1842715254:156,651,206C/T—benign
rs1116665224:156,651,207G/A—likely benign
rs9194874314:156,651,219C/Tstop gainedpathogenic
rs7615039384:156,651,221A/T—likely benign
rs1404248504:156,651,262C/G—uncertain significance
rs13687338834:156,651,264G/T—pathogenic
rs2003674504:156,651,269C/G—uncertain significance
rs1999043544:156,651,282G/A—uncertain significance
rs7492585074:156,651,325A/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.