Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.D215N

PHKG2

94 papers

RefSeq Summary

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The be...

Pfam Domains

Pkinaseaa 24–291UCSCProtein kinase domain

Gene Aliases

HGNC Name

phosphorylase kinase catalytic subunit gamma 2

HGNC Previous Name

phosphorylase kinase, gamma 2 (testis)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000294.3
p.D215N
c.643G>A
Surrounding Variants
1 paper
NM_000294.3
p.E213K
c.637G>A
1 paper
NM_000294.3
p.E213Q
c.637G>C
2 papers
NM_000294.3
p.L216Splc
c.647+5G>T
1 paper
NM_000294.3
p.H207Y
c.619C>T
1 paper
NM_000294.3
p.I198F
c.592A>T
1 paper
NM_000294.3
p.E197*
c.589G>T
1 paper
NM_000294.3
p.A195A
c.585G>A
1 paper
NM_000294.3
p.P191L
c.572C>T
4 papers
NM_000294.3
p.G189E
c.566G>A
1 paper
NM_000294.3
p.G189R
c.565G>A
1 paper
NM_000294.3
p.G189R
c.565G>C
1 paper
NM_000294.3
p.E186Splc
c.557-1G>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."