Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.C316R

PGK2

65 papers

RefSeq Summary

This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is a...

Pfam Domains

PGKaa 9–406UCSCPhosphoglycerate kinase

Gene Aliases

HGNC Name

phosphoglycerate kinase 2

HGNC Alias Symbols

PGKPS; PGK-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_138733.5
p.C316R
c.946T>C
Surrounding Variants
3 papers
NM_138733.5
p.D315N
c.943G>A
1 paper
NM_138733.5
p.S320N
c.959G>A
1 paper
NM_138733.5
p.S305Y
c.914C>A
1 paper
NM_138733.5
p.I334F
c.1000A>T
1 paper
NM_138733.5
p.Q297*
c.889C>T
1 paper
NM_138733.5
p.W336*
c.1007G>A
1 paper
NM_138733.5
p.W336*
c.1008G>A
2 papers
NM_138733.5
p.L340S
c.1019T>C
4 papers
NM_138733.5
p.D285V
c.854A>T
1 paper
NM_138733.5
p.A347V
c.1040C>T
1 paper
NM_138733.5
p.T281A
c.841A>G
1 paper
NM_138733.5
p.T352N
c.1055C>A
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