Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S69P
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GCK

NM_000162.5:p.S69P

Associated Papers

Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.

Boodhansingh KE et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.

Sabi SH et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.

Li C et al.

Diabetes, 2023

Role of connecting loop I in catalysis and allosteric regulation of human glucokinase.

Martinez JA et al.

Protein Science : a Publication of the Protein Society, 2014

Activating mutations in the human glucokinase gene revealed by genetic selection.

Pal P et al.

Biochemistry, 2009

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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."