Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G162D
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GCK

NM_000162.5:p.G162D

Associated Papers

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients.

Liu L et al.

Metabolism: Clinical and Experimental, 2018

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

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.

Capuano M et al.

Plos One, 2012

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

Tinto N et al.

Plos One, 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."