Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q239R
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GCK

NM_000162.5:p.Q239R

Associated Papers

Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.

Thewjitcharoen Y et al.

Frontiers in Endocrinology, 2026

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

Rajesh V et al.

International Journal of Molecular Sciences, 2025

Monogenic diabetes.

Horikawa Y et al.

Diabetology International, 2024

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.

Yu H et al.

Journal of Molecular Cell Biology, 2023

Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.

Cho J et al.

International Journal of Molecular Sciences, 2023

37958824 (PubMed )
Supplement: ijms-24-15842-s001.zip › ijms-2650363-supplementary.pdf

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › gnomAD

Phenotypic and Genetic Heterogeneity in a Thai Glucokinase MODY Family Reveals the Complexity of Young-Onset Diabetes.

Thewjitcharoen Y et al.

Frontiers in Endocrinology, 2021

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.

Katashima R et al.

Journal of Diabetes Research, 2021

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

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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."