Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M87L
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GCK

NM_000162.5:p.M87L

Associated Papers

GCK Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis.

Su C et al.

Pediatric Health, Medicine and Therapeutics, 2025

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

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.

Jiang F et al.

Frontiers in Endocrinology, 2021

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

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

Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.

Lukášová P et al.

Physiological Research, 2008

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

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL et al.

Human Mutation, 2003

A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

Ellard S et al.

Diabetologia, 2000

Mutations in the glucokinase gene of the fetus result in reduced birth weight.

Hattersley AT et al.

Nature Genetics, 1998

Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.

Matyka KA et al.

Archives of Disease in Childhood, 1998

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

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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."