Varaico: Literature-Extracted Genetic Variants

Gene:PHKG1
Variant:p.M1V

PHKG1

47 papers

RefSeq Summary

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit...

Pfam Domains

Pkinaseaa 20–288UCSCProtein kinase domain

Gene Aliases

HGNC Name

phosphorylase kinase catalytic subunit gamma 1

HGNC Previous Name

phosphorylase kinase, gamma 1 (muscle)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006213.5
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_006213.5
p.G27R
c.79G>C
1 paper
NM_006213.5
p.R36G
c.106C>G
1 paper
NM_006213.5
p.R36Q
c.107G>A
2 papers
NM_006213.5
p.A47T
c.139G>A
2 papers
NM_006213.5
p.V48M
c.142G>A
2 papers
NM_006213.5
p.V53I
c.157G>A
1 paper
NM_006213.5
p.V53G
c.158T>G
1 paper
NM_006213.5
p.T54I
c.161C>T
1 paper
NM_006213.5
p.S58G
c.172A>G
1 paper
NM_006213.5
p.S60R
c.178A>C
1 paper
NM_006213.5
p.R65Q
c.194G>A
1 paper
NM_006213.5
p.K91R
c.272A>G
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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."