Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.A354P

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.A354P
c.1060G>C
Surrounding Variants
2 papers
NM_000291.4
p.A354fs
c.1060_1061fs
1 paper
NM_000291.4
p.A354S
c.1060G>T
2 papers
NM_000291.4
p.A354delFs
c.1061_1062delCT
1 paper
NM_000291.4
p.K353_A354delins
c.1059_1062delinsGTCA
5 papers
NM_000291.4
p.T352N
c.1055C>A
1 paper
NM_000291.4
p.G351*
c.1051G>T
1 paper
NM_000291.4
p.V360E
c.1079T>A
1 paper
NM_000291.4
p.R365fs
c.1093_1094fs
1 paper
NM_000291.4
p.R365G
c.1093A>G
1 paper
NM_000291.4
p.R365delFs
c.1094delG
3 papers
NM_000291.4
p.T369P
c.1105A>C
9 papers
NM_000291.4
p.I371K
c.1112T>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."