Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L309R
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GCK

NM_000162.5:p.L309R

Associated Papers

A novel reverse two-hybrid method for the identification of missense mutations that disrupt protein-protein binding.

Vincent O et al.

Scientific Reports, 2020

Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.

Gutierrez-Nogués A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Characterization of two MODY2 mutations with different susceptibility to activation.

Langer S et al.

Biochemical and Biophysical Research Communications, 2015

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

García-Herrero CM et al.

Diabetologia, 2007

Interaction of glucokinase with the liver regulatory protein is conferred by leucine-asparagine motifs of the enzyme.

Baltrusch S et al.

Diabetes, 2005

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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."