rs369391839
This variant is located in the GUCY1B1 gene.
▶ClinVar annotation
About GUCY1B1
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]
View all GUCY1B1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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