Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.M40_G41ins2

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.M40_G41ins2
c.120_121ins6
Surrounding Variants
1 paper
NM_002626.6
p.R39H
c.116G>A
1 paper
NM_002626.6
p.V37_T38insFs
c.111_112ins10
1 paper
NM_002626.6
p.A36T
c.106G>A
1 paper
NM_002626.6
p.A46G
c.137C>G
1 paper
NM_002626.6
p.E53_G54insG
c.157_161ins3
1 paper
NM_002626.6
p.G29Splc
c.86-2236G>C
1 paper
NM_002626.6
p.G57V
c.170G>T
1 paper
NM_002626.6
p.S72R
c.214A>C
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
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