Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S441W
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GCK

NM_000162.5:p.S441W

Associated Papers

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.

Schiabor Barrett KM et al.

Communications Medicine, 2024

39567669 (PubMed )
Supplement: 43856_2024_663_MOESM5_ESM.xlsx › GCK_Supplementary_Data_2

How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [Ca2+] Response.

Dwulet JM et al.

Biophysical Journal, 2019

Large-scale in-silico statistical mutagenesis analysis sheds light on the deleteriousness landscape of the human proteome.

Raimondi D et al.

Scientific Reports, 2018

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C et al.

Acta Diabetologica, 2017

High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus.

Gjesing AP et al.

Journal of the Endocrine Society, 2017

29264522 (PubMed )
Supplement: js-01-681-st1.docx

Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.

Oriola J et al.

Jimd Reports, 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

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Barbetti F et al.

Molecular Endocrinology (baltimore, Md.), 2009

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

Vits L et al.

Clinical Genetics, 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

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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."