Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C252Y
Back to variants list

GCK

NM_000162.5:p.C252Y

Associated Papers

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

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM.

Liu J et al.

Diabetology & Metabolic Syndrome, 2023

37875989 (PubMed )
Supplement: 13098_2023_1175_MOESM1_ESM.docx

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › kinetics

The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.

Ivanoshchuk D et al.

Journal of Personalized Medicine, 2023

36836406 (PubMed )
Supplement: jpm-13-00172-s001.zip › jpm-2120690-supplementary.pdf

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.

Dai T et al.

Frontiers in Genetics, 2023

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

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Ivanoshchuk DE et al.

Journal of Personalized Medicine, 2021

A novel reverse two-hybrid method for the identification of missense mutations that disrupt protein-protein binding.

Vincent O et al.

Scientific Reports, 2020

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

Mutational analysis of allosteric activation and inhibition of glucokinase.

Zelent B et al.

The Biochemical Journal, 2011

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

Bonfig W et al.

Isrn Pediatrics, 2011

Sugar binding to recombinant wild-type and mutant glucokinase monitored by kinetic measurement and tryptophan fluorescence.

Zelent B et al.

The Biochemical Journal, 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

Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.

Barrio R et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."