Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.E252A

PGK1

251 papers

RefSeq Summary

The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alp...

Pfam Domains

PGKaa 9–406UCSCPhosphoglycerate kinase

Gene Aliases

HGNC Name

phosphoglycerate kinase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_000291.4
p.E252A
c.755A>C
Surrounding Variants
1 paper
NM_000291.4
p.E252K
c.754G>A
7 papers
NM_000291.4
p.E252_I253Splc
c.756+3A>G
9 papers
NM_000291.4
p.E252_I253Splc
c.756+5G>A
1 paper
NM_000291.4
p.N249S
c.746A>G
1 paper
NM_000291.4
p.V247insFs
c.739dupG
2 papers
NM_000291.4
p.F244V
c.730T>G
1 paper
NM_000291.4
p.F242S
c.725T>C
1 paper
NM_000291.4
p.I236_G237delFs
c.706_709del4
1 paper
NM_000291.4
p.E233Q
c.697G>C
1 paper
NM_000291.4
p.N232K
c.696T>A
1 paper
NM_000291.4
p.N232K
c.696T>G
1 paper
NM_000291.4
p.N232insFs
c.694_695insT
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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."