Varaico: Literature-Extracted Genetic Variants

Gene:KHK

KHK

84 papers

RefSeq Summary

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructos...

Pfam Domains

PfkBaa 3–295UCSCpfkB family carbohydrate kinase

Gene Aliases

HGNC Name

ketohexokinase

HGNC Previous Name

ketohexokinase (fructokinase)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
8 papers
NM_006488.3
p.G40R
c.118G>A
8 papers
NM_006488.3
p.G40R
c.118G>C
7 papers
NM_006488.3
p.A43T
c.127G>A
5 papers
NM_006488.3
p.V49I
c.145G>A
3 papers
NM_006488.3
p.V81A
c.242T>C
2 papers
NM_006488.3
p.R152Q
c.455G>A
2 papers
NM_006488.3
p.R176Q
c.527G>A
2 papers
NM_006488.3
p.V264I
c.790G>A
2 papers
NM_006488.3
p.C282Y
c.845G>A
2 papers
NM_006488.3
p.G293D
c.878G>A
1 paper
NM_006488.3
p.M1V
c.1A>G
1 paper
NM_006488.3
p.C8S
c.22T>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."