Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.C50S

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.C50S
c.148T>A
Surrounding Variants
1 paper
NM_138733.5
p.C50S
c.149G>C
1 paper
NM_138733.5
p.K48N
c.144G>T
1 paper
NM_138733.5
p.K48N
c.144G>C
2 papers
NM_138733.5
p.I47N
c.140T>A
1 paper
NM_138733.5
p.G54R
c.160G>C
1 paper
NM_138733.5
p.G54R
c.160G>A
1 paper
NM_138733.5
p.R66Q
c.197G>A
1 paper
NM_138733.5
p.D74G
c.221A>G
1 paper
NM_138733.5
p.S77F
c.230C>T
1 paper
NM_138733.5
p.V19I
c.55G>A
1 paper
NM_138733.5
p.A82D
c.245C>A
1 paper
NM_138733.5
p.R15K
c.44G>A
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