Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.C99S

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
1 paper
NM_138733.5
p.C99S
c.295T>A
Surrounding Variants
1 paper
NM_138733.5
p.C99S
c.296G>C
1 paper
NM_138733.5
p.A102T
c.304G>A
1 paper
NM_138733.5
p.L94Q
c.281T>A
1 paper
NM_138733.5
p.D92E
c.276T>G
1 paper
NM_138733.5
p.D92E
c.276T>A
4 papers
NM_138733.5
p.L89P
c.266T>C
1 paper
NM_138733.5
p.A82D
c.245C>A
1 paper
NM_138733.5
p.S77F
c.230C>T
1 paper
NM_138733.5
p.R123H
c.368G>A
1 paper
NM_138733.5
p.D74G
c.221A>G
1 paper
NM_138733.5
p.E129K
c.385G>A
2 papers
NM_138733.5
p.G130V
c.389G>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."