rs73579342

This variant is located in the GRK1 gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

Oguchi disease-2; GRK1-related disorder; not specified; not provided

About GRK1

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]

View all GRK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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