Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.D590A

PFKL

96 papers

RefSeq Summary

This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). Thi...

Pfam Domains

PFKaa 17–324UCSCPhosphofructokinase
PFKaa 401–686UCSCPhosphofructokinase

Gene Aliases

HGNC Name

phosphofructokinase, liver type

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002626.6
p.D590A
c.1769A>C
Surrounding Variants
1 paper
NM_002626.6
p.G588R
c.1762G>A
1 paper
NM_002626.6
p.G588R
c.1762G>C
1 paper
NM_002626.6
p.R564C
c.1690C>T
1 paper
NM_002626.6
p.D553N
c.1657G>A
1 paper
NM_002626.6
p.C552S
c.1655G>C
1 paper
NM_002626.6
p.C552S
c.1654T>A
1 paper
NM_002626.6
p.G649C
c.1945G>T
1 paper
NM_002626.6
p.A547A
c.1641C>T
1 paper
NM_002626.6
p.D542Fs
c.1625delinsCTFs
1 paper
NM_002626.6
p.I519I
c.1557C>T
1 paper
NM_002626.6
p.P669A
c.2005C>G
1 paper
NM_002626.6
p.N702T
c.2105A>C
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