Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E442*
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GCK

NM_000162.5:p.E442*

Associated Papers

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

UDP-Glucose: A Cereblon-Dependent Glucokinase Protein Degrader.

Cho J et al.

International Journal of Molecular Sciences, 2022

Glucokinase-maturity onset diabetes mellitus in the young suggested by factory-calibrated glucose monitoring data: a case report.

Nomura N et al.

Endocrine Journal, 2022

L-Arginine prevents cereblon-mediated ubiquitination of glucokinase and stimulates glucose-6-phosphate production in pancreatic β-cells.

Cho J et al.

Communications Biology, 2020

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S et al.

Pediatric Diabetes, 2010

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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."