Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S453L
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GCK

NM_000162.5:p.S453L

Associated Papers

Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.

Yoshiji S et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Sharp LN et al.

Diabetes, 2026

41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.

Wu HX et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Marucci A et al.

Acta Diabetologica, 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

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

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

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Bonfig W et al.

Isrn Pediatrics, 2011

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Sagen JV et al.

Pediatric Diabetes, 2008

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV et al.

Diabetes, 2006

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

TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.

Demiral M et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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