Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.S136C

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.S136C
c.407C>G
Surrounding Variants
1 paper
NM_138733.5
p.P135delins
c.404_405delinsTG
1 paper
NM_138733.5
p.P135L
c.404C>T
2 papers
NM_138733.5
p.G130V
c.389G>T
1 paper
NM_138733.5
p.E129K
c.385G>A
1 paper
NM_138733.5
p.D145N
c.433G>A
1 paper
NM_138733.5
p.R123H
c.368G>A
4 papers
NM_138733.5
p.G158V
c.473G>T
2 papers
NM_138733.5
p.D159N
c.475G>A
3 papers
NM_138733.5
p.D164V
c.491A>T
2 papers
NM_138733.5
p.H170L
c.509A>T
1 paper
NM_138733.5
p.A102T
c.304G>A
1 paper
NM_138733.5
p.C99S
c.296G>C
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