Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M251V
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GCK

NM_000162.5:p.M251V

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Sanri A et al.

Pediatric Diabetes, 2025

Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.

Yorifuji T et al.

Journal of Diabetes Investigation, 2023

Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis.

Li Z et al.

Advanced Biology, 2022

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T et al.

Pediatric Diabetes, 2018

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Šimčíková D et al.

Scientific Reports, 2017

Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.

Kawakita R et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2014

Glucokinase gene mutations (MODY 2) in Asian Indians.

Kanthimathi S et al.

Diabetes Technology & Therapeutics, 2014

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 diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S et al.

Pediatric Diabetes, 2010

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

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.

Pruhova S et al.

Diabetologia, 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."