Varaico: Literature-Extracted Genetic Variants

Gene:PGK2

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
1–12 of 77 variants
4 papers
NM_138733.5
p.L89P
c.266T>C
4 papers
NM_138733.5
p.G158V
c.473G>T
4 papers
NM_138733.5
p.D285V
c.854A>T
3 papers
NM_138733.5
p.D164V
c.491A>T
3 papers
NM_138733.5
p.E252A
c.755A>C
3 papers
NM_138733.5
p.D315N
c.943G>A
2 papers
NM_138733.5
p.I47N
c.140T>A
2 papers
NM_138733.5
p.G130V
c.389G>T
2 papers
NM_138733.5
p.D159N
c.475G>A
2 papers
NM_138733.5
p.H170L
c.509A>T
2 papers
NM_138733.5
p.K191del1
c.571_572delCTT
2 papers
NM_138733.5
p.D268N
c.802G>A
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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."