Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R308W
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GCK

NM_000162.5:p.R308W

Associated Papers

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › abundance_scores

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

37292969 (PubMed )
Supplement: media-2.xlsx › abundance_scores

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › activity_scores

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

Dwulet JM et al.

Biophysical Journal, 2019

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

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

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

Shen Y et al.

Human Genetics, 2011

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Bonfig W et al.

Isrn Pediatrics, 2011

[The functional analysis of glucokinase gene E339K mutation].

Shen YF et al.

Zhonghua Nei Ke Za Zhi, 2010

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

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

García-Herrero CM et al.

Diabetologia, 2007

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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."