Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N231S
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GCK

NM_000162.5:p.N231S

Associated Papers

Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.

Yoshiji S et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

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

Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.

Borowiec M et al.

Clinical Genetics, 2012

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

Gozlan Y et al.

Pediatric Diabetes, 2012

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Sagen JV et al.

Pediatric Diabetes, 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."