Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.I47N

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
14 papers
NM_000291.4
p.I47N
c.140T>A
Surrounding Variants
1 paper
NM_000291.4
p.K48R
c.143A>G
1 paper
NM_000291.4
p.P45P
c.135A>T
1 paper
NM_000291.4
p.C50W
c.150C>G
1 paper
NM_000291.4
p.L51F
c.153G>C
1 paper
NM_000291.4
p.L51F
c.153G>T
1 paper
NM_000291.4
p.N53S
c.158A>G
1 paper
NM_000291.4
p.N53N
c.159T>C
1 paper
NM_000291.4
p.A55A
c.165C>A
1 paper
NM_000291.4
p.K56E
c.166A>G
1 paper
NM_000291.4
p.K56R
c.167A>G
1 paper
NM_000291.4
p.S57T
c.169T>A
1 paper
NM_000291.4
p.S57L
c.170C>T
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