Varaico: Literature-Extracted Genetic Variants

Gene:PFKL

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
1–12 of 107 variants
2 papers
NM_002626.6
p.A320A
c.960G>A
2 papers
NM_002626.6
p.T328M
c.983C>T
2 papers
NM_002626.6
p.V352M
c.1054G>A
2 papers
NM_002626.6
p.V717A
c.2150T>C
1 paper
NM_002626.6
p.A2T
c.4G>A
1 paper
NM_002626.6
p.A3S
c.7G>T
1 paper
NM_002626.6
p.D5V
c.14A>T
1 paper
NM_002626.6
p.L6delFs
c.17delT
1 paper
NM_002626.6
p.E7E
c.21G>A
1 paper
NM_002626.6
p.K8K
c.24G>A
1 paper
NM_002626.6
p.R10insFs
c.29_30insA
1 paper
NM_002626.6
p.A14T
c.40G>A
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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."