Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C220Y
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GCK

NM_000162.5:p.C220Y

Associated Papers

Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.

Bazzazzadehgan S et al.

Biomolecules, 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 › fasting_glucose

Dorzagliatin, a Dual-Acting Glucokinase Activator, Increases Insulin Secretion and Glucose Sensitivity in Glucokinase Maturity-Onset Diabetes of the Young and Recent-Onset Type 2 Diabetes.

Chow E et al.

Diabetes, 2023

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

Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children.

Xu A et al.

Pediatric Diabetes, 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

Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2.

Shoemaker AH et al.

Diabetes Research and Clinical Practice, 2012

Generation of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators.

Fenner D et al.

The Journal of Biological Chemistry, 2011

Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects.

Aigner B et al.

American Journal of Physiology. Endocrinology and Metabolism, 2008

A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.

Inoue M et al.

Human Molecular Genetics, 2004

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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."