Varaico: Literature-Extracted Genetic Variants

Gene:PGK1

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
1–12 of 182 variants
22 papers
NM_000291.4
p.T378P
c.1132A>C
17 papers
NM_000291.4
p.D164V
c.491A>T
16 papers
NM_000291.4
p.E252A
c.755A>C
16 papers
NM_000291.4
p.A354P
c.1060G>C
14 papers
NM_000291.4
p.I47N
c.140T>A
13 papers
NM_000291.4
p.G158V
c.473G>T
13 papers
NM_000291.4
p.R206P
c.617G>C
13 papers
NM_000291.4
p.C316R
c.946T>C
12 papers
NM_000291.4
p.D268N
c.802G>A
12 papers
NM_000291.4
p.D285V
c.854A>T
12 papers
NM_000291.4
p.D315N
c.943G>A
11 papers
NM_000291.4
p.L89P
c.266T>C
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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."