Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.P204L

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.P204L
c.611C>T
Surrounding Variants
13 papers
NM_000291.4
p.R206P
c.617G>C
1 paper
NM_000291.4
p.L201F
c.603G>C
1 paper
NM_000291.4
p.L201F
c.603G>T
2 papers
NM_000291.4
p.A200V
c.599C>T
1 paper
NM_000291.4
p.F197I
c.589T>A
1 paper
NM_000291.4
p.L212L
c.634C>T
2 papers
NM_000291.4
p.G213_G214delFs
c.637_640del4
1 paper
NM_000291.4
p.G213fs
c.637_638fs
11 papers
NM_000291.4
p.G213G
c.639C>T
1 paper
NM_000291.4
p.G214insFs
c.641_642insC
1 paper
NM_000291.4
p.L194R
c.581T>G
1 paper
NM_000291.4
p.M190I
c.570G>A
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