Varaico: Literature-Extracted Genetic Variants

Gene:PHKG1
Variant:p.L175V

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.L175V
c.523C>G
Surrounding Variants
1 paper
NM_006213.5
p.P177L
c.530C>T
1 paper
NM_006213.5
p.F171L
c.513T>G
1 paper
NM_006213.5
p.F171L
c.513T>A
1 paper
NM_006213.5
p.F171L
c.511T>C
1 paper
NM_006213.5
p.E179Q
c.535G>C
2 papers
NM_006213.5
p.F169C
c.506T>G
1 paper
NM_006213.5
p.R182*
c.544C>T
1 paper
NM_006213.5
p.T167P
c.499A>C
1 paper
NM_006213.5
p.D160N
c.478G>A
1 paper
NM_006213.5
p.R128Splc
c.383+2T>C
1 paper
NM_006213.5
p.L116_K125delFs
c.348_373del26
1 paper
NM_006213.5
p.D114V
c.341A>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."