Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E70D
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GCK

NM_000162.5:p.E70D

Associated Papers

How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [Ca2+] Response.

Dwulet JM et al.

Biophysical Journal, 2019

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Šimčíková D et al.

Scientific Reports, 2017

28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf

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."