GRK1 Chromosome 13
G protein-coupled receptor kinase 1
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What This Gene Does
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]
Gene Info
Gene Group
G protein-coupled receptor kinase family
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000185974
Associated Conditions (3)
Oguchi disease-2
Retinal dystrophy
Congenital stationary night blindness
Key Variants
RS756235051
Conflicting classifications of pathogenicity
Oguchi disease-2, Retinal dystrophy, Oguchi disease-2
Health Risk
RS1441327018
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS1594580431
Likely pathogenic
Congenital stationary night blindness, Oguchi disease-2, Congenital stationary night blindness
Health Risk
RS2049829612
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS2049829935
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS2049830881
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS2049858551
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS2049935254
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS2049992612
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS2049994399
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS370713047
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
RS753470112
Likely pathogenic
Oguchi disease-2, Oguchi disease-2
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756235051 | Health Risk | Conflicting classifications of pathogenicity | Oguchi disease-2, Retinal dystrophy, Oguchi disease-2 |
| RS1441327018 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS1594580431 | Health Risk | Likely pathogenic | Congenital stationary night blindness, Oguchi disease-2, Congenital stationary night blindness |
| RS2049829612 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS2049829935 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS2049830881 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS2049858551 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS2049935254 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS2049992612 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS2049994399 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS370713047 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS753470112 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS761138317 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS765070399 | Health Risk | Likely pathogenic | Retinal dystrophy, Oguchi disease-2, Retinal dystrophy |
| RS995065177 | Health Risk | Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS137877289 | Health Risk | Pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS748680704 | Health Risk | Pathogenic | Oguchi disease-2, Retinal dystrophy, Oguchi disease-2 |
| RS570621429 | Health Risk | Pathogenic/Likely pathogenic | Oguchi disease-2, Oguchi disease-2 |
| RS777094000 | Health Risk | Pathogenic/Likely pathogenic | Oguchi disease-2, Retinal dystrophy, Oguchi disease-2 |