Varaico: Literature-Extracted Genetic Variants

Gene:KHK
Variant:p.G40R
Back to variants list

KHK

NM_006488.3:p.G40R

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

Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response.

Biswas R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900369 (PubMed )
Supplement: supp_mcs.a001263_SuppTable_S3.xlsx › Supplementary_Table_S3_A

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."