Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.S72R

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.S72R
c.214A>C
Surrounding Variants
1 paper
NM_002626.6
p.S72R
c.216C>A
1 paper
NM_002626.6
p.S72R
c.216C>G
1 paper
NM_002626.6
p.S74S
c.222C>T
1 paper
NM_002626.6
p.I77T
c.230T>C
1 paper
NM_002626.6
p.G57V
c.170G>T
1 paper
NM_002626.6
p.R88H
c.263G>A
1 paper
NM_002626.6
p.N112_L113insFs
c.336_337ins4
1 paper
NM_002626.6
p.G118R
c.352G>A
1 paper
NM_002626.6
p.G118R
c.352G>C
1 paper
NM_002626.6
p.L122H
c.365T>A
1 paper
NM_002626.6
p.L122L
c.366C>G
1 paper
NM_002626.6
p.G133D
c.398G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."