Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.N295H

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
1 paper
NM_000291.4
p.N295H
c.883A>C
Surrounding Variants
1 paper
NM_000291.4
p.D293H
c.877G>C
2 papers
NM_000291.4
p.D290A
c.869A>C
1 paper
NM_000291.4
p.D285E
c.855C>A
1 paper
NM_000291.4
p.D285E
c.855C>G
12 papers
NM_000291.4
p.D285V
c.854A>T
1 paper
NM_000291.4
p.P308H
c.923C>A
1 paper
NM_000291.4
p.V278A
c.833T>C
1 paper
NM_000291.4
p.D268V
c.803A>T
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.V266V
c.798C>A
2 papers
NM_000291.4
p.V266V
c.798C>G
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