Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E221K
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GCK

NM_000162.5:p.E221K

Associated Papers

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

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

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

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

Goksen D et al.

Diabetes Research and Clinical Practice, 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_Probands

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

Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel.

Doğan M et al.

Molecular Biology Reports, 2022

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

Abreu GM et al.

Frontiers in Endocrinology, 2022

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.

Ateş EA et al.

Balkan Medical Journal, 2021

Localized increases in CEPT1 and ATGL elevate plasmalogen phosphatidylcholines in HDLs contributing to atheroprotective lipid profiles in hyperglycemic GCK-MODY.

Wang X et al.

Redox Biology, 2021

33450726 (PubMed )
Supplement: mmc1.pdf

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.

Cheon CK et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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

Zhou Y et al.

Endocrine Connections, 2020

Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes.

Ming-Qiang Z et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

Wang Z et al.

Journal of Diabetes Investigation, 2019

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Santana LS et al.

Clinical Genetics, 2017

Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.

Wędrychowicz A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

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

Molecular modeling and identification of novel glucokinase activators through stepwise virtual screening.

Behera PM et al.

Journal of Molecular Graphics & Modelling, 2015

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

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

Caetano LA et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations.

Yokota I et al.

Endocrine Journal, 2011

Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.

Lorini R et al.

Diabetes Care, 2009

G/A polymorphism at -258 of the hepatic glucokinase promoter is not associated with decreased birth weight in preterm neonates.

Pawlowski M et al.

Neonatology, 2008

Hyperinsulinism in infancy: from basic science to clinical disease.

Dunne MJ et al.

Physiological Reviews, 2004

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 eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.

Mantovani V et al.

Human Mutation, 2003

Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young.

Baroni MG et al.

Journal of Molecular Medicine (berlin, Germany), 2001

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

Guazzini B et al.

Human Mutation, 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."