Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.D537_G538delFs

GRK1

200 papers

RefSeq Summary

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 initia...

Pfam Domains

RGSaa 57–174UCSCRegulator of G protein signaling domain
Pkinaseaa 190–455UCSCProtein kinase domain

Gene Aliases

HGNC Name

G protein-coupled receptor kinase 1

HGNC Previous Symbol

RHOK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_002929.3
p.D537_G538delFs
c.1610_1613del4
Surrounding Variants
2 papers
NM_002929.3
p.S536L
c.1607C>T
1 paper
NM_002929.3
p.D537fs
c.1609_1610fs
7 papers
NM_002929.3
p.D537fs
c.1609_1610fs
1 paper
NM_002929.3
p.D537V
c.1610A>T
3 papers
NM_002929.3
p.G538S
c.1612G>A
1 paper
NM_002929.3
p.E530K
c.1588G>A
1 paper
NM_002929.3
p.T525T
c.1575G>A
1 paper
NM_002929.3
p.G549R
c.1645G>A
1 paper
NM_002929.3
p.G549R
c.1645G>C
2 papers
NM_002929.3
p.E520A
c.1559A>C
1 paper
NM_002929.3
p.S554L
c.1661C>T
1 paper
NM_002929.3
p.P517fs
c.1549_1550fs
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