Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G324R
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KCNJ11

NM_000525.4:p.G324R

Associated Papers

Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.

Elangeeb ME et al.

Molecules (basel, Switzerland), 2024

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Neonatal Diabetes Mellitus: Novel Mutations.

Nayak S et al.

Indian Journal of Pediatrics, 2021

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.

Tinker A et al.

Comprehensive Physiology, 2018

Neonatal Diabetes and the KATP Channel: From Mutation to Therapy.

Ashcroft FM et al.

Trends in Endocrinology and Metabolism: Tem, 2017

Modulation of Ionic Channels and Insulin Secretion by Drugs and Hormones in Pancreatic Beta Cells.

Velasco M et al.

Molecular Pharmacology, 2016

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

Vedovato N et al.

Diabetologia, 2016

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

Babiker T et al.

Diabetologia, 2016

27033559 (PubMed )
Supplement: 125_2016_3921_MOESM3_ESM.pdf

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

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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."