Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.P517fs

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
1 paper
NM_002929.3
p.P517fs
c.1549_1550fs
Surrounding Variants
1 paper
NM_002929.3
p.P517fs
c.1549_1550fs
1 paper
NM_002929.3
p.P517_E520delFs
c.1549_1559del11
1 paper
NM_002929.3
p.I516delFs
c.1546delA
1 paper
NM_002929.3
p.P515T
c.1543C>A
2 papers
NM_002929.3
p.E520A
c.1559A>C
1 paper
NM_002929.3
p.T525T
c.1575G>A
2 papers
NM_002929.3
p.E508_I516del9
c.1522_1547del27
1 paper
NM_002929.3
p.E530K
c.1588G>A
13 papers
NM_002929.3
p.D537_G538delFs
c.1610_1613del4
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
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