Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E339K
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GCK

NM_000162.5:p.E339K

Associated Papers

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

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

Crystal structure of E339K mutated human glucokinase reveals changes in the ATP binding site.

Liu Q et al.

Febs Letters, 2011

Insight into the biochemical characteristics of a novel glucokinase gene mutation.

Shen Y et al.

Human Genetics, 2011

[The functional analysis of glucokinase gene E339K mutation].

Shen YF et al.

Zhonghua Nei Ke Za Zhi, 2010

[Identification of a novel glucokinase-E339K mutation in a Chinese maturity onset diabetes of the young 2 pedigree].

Cai MY et al.

Zhonghua Nei Ke Za Zhi, 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."