Varaico: Literature-Extracted Genetic Variants

Gene:KHK
Variant:p.A43T
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KHK

NM_006488.3:p.A43T

Associated Papers

Crystal structures of human and mouse ketohexokinase provide a structural basis for species- and isoform-selective inhibitor design.

Ebenhoch R et al.

Acta Crystallographica. Section D, Structural Biology, 2023

Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants.

Johnston JA et al.

Plos One, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Structures of alternatively spliced isoforms of human ketohexokinase.

Trinh CH et al.

Acta Crystallographica. Section D, Biological Crystallography, 2009

Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.

Asipu A et al.

Diabetes, 2003

Molecular genetics of the human glucokinase regulator-fructokinase (GCKR-KHK) region of chromosome 2p23.

Hayward BE et al.

Biochemical Society Transactions, 1997

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).

Bonthron DT et al.

Human Molecular Genetics, 1994

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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."