Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.S256A

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
2 papers
NM_000291.4
p.S256A
c.766T>G
Surrounding Variants
1 paper
NM_000291.4
p.L257P
c.770T>C
11 papers
NM_000291.4
p.I253T
c.758T>C
1 paper
NM_000291.4
p.I265T
c.794T>C
6 papers
NM_000291.4
p.V266I
c.796G>A
2 papers
NM_000291.4
p.V266delins
c.796_798delinsATG
1 paper
NM_000291.4
p.V266V
c.798C>A
2 papers
NM_000291.4
p.V266V
c.798C>G
12 papers
NM_000291.4
p.D268N
c.802G>A
1 paper
NM_000291.4
p.D268H
c.802G>C
1 paper
NM_000291.4
p.D268V
c.803A>T
1 paper
NM_000291.4
p.V278A
c.833T>C
12 papers
NM_000291.4
p.D285V
c.854A>T
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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."