Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.T328M

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
2 papers
NM_002626.6
p.T328M
c.983C>T
Surrounding Variants
1 paper
NM_002626.6
p.P329P
c.987T>G
1 paper
NM_002626.6
p.P332L
c.995C>T
1 paper
NM_002626.6
p.A323_A327delFs
c.967_979del13
2 papers
NM_002626.6
p.A320A
c.960G>A
1 paper
NM_002626.6
p.M318K
c.953T>A
1 paper
NM_002626.6
p.M318V
c.952A>G
1 paper
NM_002626.6
p.C351Y
c.1052G>A
2 papers
NM_002626.6
p.V352M
c.1054G>A
1 paper
NM_002626.6
p.K365E
c.1093A>G
1 paper
NM_002626.6
p.R366insFs
c.1097_1098ins4
1 paper
NM_002626.6
p.E369K
c.1105G>A
1 paper
NM_002626.6
p.R310Q
c.929G>A
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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."