Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.V139L

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.V139L
c.415G>C
Surrounding Variants
4 papers
NM_002929.3
p.Q142_L145del4
c.424_434del12
2 papers
NM_002929.3
p.I141I
c.423C>T
1 paper
NM_002929.3
p.Q142delFs
c.425_426delAG
1 paper
NM_002929.3
p.K135E
c.403A>G
1 paper
NM_002929.3
p.K133E
c.397A>G
1 paper
NM_002929.3
p.L145I
c.433C>A
1 paper
NM_002929.3
p.I130T
c.389T>C
1 paper
NM_002929.3
p.D127delFs
c.381delT
1 paper
NM_002929.3
p.F125L
c.375C>A
1 paper
NM_002929.3
p.A152D
c.455C>A
1 paper
NM_002929.3
p.F125L
c.375C>G
1 paper
NM_002929.3
p.F125L
c.373T>C
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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."