Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E322K
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GCK

NM_000162.5:p.E322K

Associated Papers

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

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

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B et al.

Journal of Diabetes, 2021

Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.

Letourneau LR et al.

Current Diabetes Reports, 2018

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

Russo L et al.

Diabetologia, 2011

[Long-term follow-up of permanent neonatal diabetes in Tunisian infant].

Ben Hamouda H et al.

Annales D'endocrinologie, 2010

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

Flechtner I et al.

Endocrine Development, 2007

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER et al.

The New England Journal of Medicine, 2006

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL et al.

Human Mutation, 2006

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Hattersley AT et al.

Diabetes, 2005

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL et al.

Human Molecular Genetics, 2005

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS et al.

Annals of Medicine, 2005

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

Vaxillaire M et al.

Diabetes, 2004

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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."