Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q26*
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GCK

NM_000162.5:p.Q26*

Associated Papers

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Ding Y 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

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

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

Zhou Y et al.

Endocrine Connections, 2020

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx

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

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C et al.

Acta Diabetologica, 2017

Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

Costantini S et al.

Clinical Genetics, 2015

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

MODY 2: mutation identification and molecular ancestry in a Brazilian family.

Mota AJ et al.

Gene, 2013

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."