Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.S198Splc

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.S198Splc
c.593+1G>A
Surrounding Variants
1 paper
NM_002626.6
p.T195N
c.584C>A
1 paper
NM_002626.6
p.E187A
c.560A>C
1 paper
NM_002626.6
p.E187Q
c.559G>C
1 paper
NM_002626.6
p.S180W
c.539C>G
1 paper
NM_002626.6
p.G177S
c.529G>A
1 paper
NM_002626.6
p.D168N
c.502G>A
1 paper
NM_002626.6
p.D166N
c.496G>A
1 paper
NM_002626.6
p.V162G
c.485T>G
1 paper
NM_002626.6
p.R151W
c.451C>T
1 paper
NM_002626.6
p.R210W
c.628C>T
1 paper
NM_002626.6
p.G213Splc
c.639-4C>T
1 paper
NM_002626.6
p.G213Splc
c.639-2A>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."