Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.D5V

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.D5V
c.14A>T
Surrounding Variants
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.A3S
c.7G>T
1 paper
NM_002626.6
p.A2T
c.4G>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
1 paper
NM_002626.6
p.K16E
c.46A>G
1 paper
NM_002626.6
p.I18insFs
c.53_54insG
1 paper
NM_002626.6
p.G25R
c.73G>C
1 paper
NM_002626.6
p.G29_M30insA
c.85_89ins3
1 paper
NM_002626.6
p.G29Splc
c.86-2236G>C
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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."