Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.A354T

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.A354T
c.1060G>A
Surrounding Variants
1 paper
NM_138733.5
p.A354P
c.1060G>C
1 paper
NM_138733.5
p.L355P
c.1064T>C
1 paper
NM_138733.5
p.T352T
c.1056C>A
1 paper
NM_138733.5
p.T352N
c.1055C>A
1 paper
NM_138733.5
p.E358*
c.1072G>T
1 paper
NM_138733.5
p.A347V
c.1040C>T
2 papers
NM_138733.5
p.L340S
c.1019T>C
1 paper
NM_138733.5
p.I371T
c.1112T>C
2 papers
NM_138733.5
p.I371K
c.1112T>A
1 paper
NM_138733.5
p.W336*
c.1008G>A
1 paper
NM_138733.5
p.W336*
c.1007G>A
1 paper
NM_138733.5
p.G374R
c.1120G>C
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