Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.E148D

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.E148D
c.444A>C
Surrounding Variants
1 paper
NM_000291.4
p.E148D
c.444A>T
1 paper
NM_000291.4
p.K146I
c.437A>T
3 papers
NM_000291.4
p.L154P
c.461T>C
1 paper
NM_000291.4
p.A142A
c.426C>T
1 paper
NM_000291.4
p.S155C
c.464C>G
1 paper
NM_000291.4
p.K141R
c.422A>G
1 paper
NM_000291.4
p.K156R
c.467A>G
1 paper
NM_000291.4
p.L157I
c.469C>A
1 paper
NM_000291.4
p.V140I
c.418G>A
2 papers
NM_000291.4
p.G158R
c.472G>A
3 papers
NM_000291.4
p.G158R
c.472G>C
13 papers
NM_000291.4
p.G158V
c.473G>T
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