rs376500529

This variant is located in the GUCY1B1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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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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