Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.R310Q

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.R310Q
c.929G>A
Surrounding Variants
1 paper
NM_002626.6
p.Q300K
c.898C>A
1 paper
NM_002626.6
p.T291I
c.872C>T
1 paper
NM_002626.6
p.L287P
c.860T>C
1 paper
NM_002626.6
p.D281_L282Splc
c.844-17T>C
1 paper
NM_002626.6
p.S275delFs
c.825delG
1 paper
NM_002626.6
p.I274L
c.820A>C
1 paper
NM_002626.6
p.N270delFs
c.809delA
1 paper
NM_002626.6
p.R269H
c.806G>A
1 paper
NM_002626.6
p.D268H
c.802G>C
1 paper
NM_002626.6
p.S255fs
c.763_764fs
1 paper
NM_002626.6
p.R253C
c.757C>T
1 paper
NM_002626.6
p.R253fs
c.757_758fs
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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."