Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G246E
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GCK

NM_000162.5:p.G246E

Associated Papers

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Buhur Pirimoglu M et al.

Irish Journal of Medical Science, 2025

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N et al.

Acta Diabetologica, 2019

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

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

Garin I et al.

Clinical Endocrinology, 2008

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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."