Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S418Splc
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GCK

NM_000162.5:p.S418Splc

Associated Papers

Monogenic diabetes.

Horikawa Y et al.

Diabetology International, 2024

Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.

Cho J et al.

International Journal of Molecular Sciences, 2023

37958824 (PubMed )
Supplement: ijms-24-15842-s001.zip › ijms-2650363-supplementary.pdf

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

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

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

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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."