Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y215*
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GCK

NM_000162.5:p.Y215*

Associated Papers

Composite Digenic Diabetes Linked to Heterozygous Variants of <italic>GCK</italic> and <italic>NEUROD1</italic>: A Case Report.

Rapini N et al.

Hormone Research in Paediatrics, 2025

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

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Patel KA et al.

Diabetologia, 2022

34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf

MitoLink: A generic integrated web-based workflow system to evaluate genotype-phenotype correlations in human mitochondrial diseases: Observations from the GenomeAsia Pilot project.

Kumar R et al.

Mitochondrion, 2021

Evaluation of pregnancy outcomes in women with GCK-MODY.

López Tinoco C et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 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

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC et al.

Clinical Chemistry, 2020

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

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

Wang Z et al.

Journal of Diabetes Investigation, 2019

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.

Shepherd MH et al.

Diabetologia, 2018

30229274 (PubMed )
Supplement: 125_2018_4728_MOESM1_ESM.pdf

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

Polymorphisms rs144723656, rs2268574, and rs2268575 of the glucokinase gene are not associated with obese women with type 2 diabetes mellitus.

Frigeri HR et al.

Clinical Biochemistry, 2016

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

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

Ellard S et al.

Diabetologia, 2000

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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."