Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.L44P

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.L44P
c.131T>C
Surrounding Variants
1 paper
NM_002929.3
p.P43P
c.129G>A
1 paper
NM_002929.3
p.K46M
c.137A>T
4 papers
NM_002929.3
p.E48_S49delFs
c.142_145del4
1 paper
NM_002929.3
p.E48fs
c.142_143fs
1 paper
NM_002929.3
p.E48fs
c.142_143fs
2 papers
NM_002929.3
p.K38M
c.113A>T
1 paper
NM_002929.3
p.R51C
c.151C>T
1 paper
NM_002929.3
p.Y35*
c.105C>A
1 paper
NM_002929.3
p.L54F
c.160C>T
1 paper
NM_002929.3
p.K33E
c.97A>G
2 papers
NM_002929.3
p.Q28H
c.84A>C
2 papers
NM_002929.3
p.Q28H
c.84A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."