Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.G29Splc

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.G29Splc
c.86-2236G>C
Surrounding Variants
1 paper
NM_002626.6
p.A36T
c.106G>A
1 paper
NM_002626.6
p.V37_T38insFs
c.111_112ins10
1 paper
NM_002626.6
p.R39H
c.116G>A
1 paper
NM_002626.6
p.M40_G41ins2
c.120_121ins6
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.G29_M30insA
c.85_89ins3
1 paper
NM_002626.6
p.G25R
c.73G>C
1 paper
NM_002626.6
p.I18insFs
c.53_54insG
1 paper
NM_002626.6
p.K16E
c.46A>G
1 paper
NM_002626.6
p.A14T
c.40G>A
1 paper
NM_002626.6
p.R10insFs
c.29_30insA
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