Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.S385C
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KCNJ11

NM_000525.4:p.S385C

Associated Papers

Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.

Rout M et al.

Communications Medicine, 2025

Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.

Ba T et al.

Clinical Endocrinology, 2024

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

Elangeeb ME et al.

Molecules (basel, Switzerland), 2024

Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.

Teerawattanapong N et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 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

Congenital hyperinsulinism in Gran Canaria, Canary Isles.

Nóvoa-Medina Y et al.

Anales De Pediatria, 2021

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together

Utilizing the KCNJ11 Gene Mutations in Spotting Egyptian Patients With Permanent Neonatal Diabetes Who Can Benefit From Treatment Shift.

Ahmed DM et al.

Laboratory Medicine, 2017

KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.

Song J et al.

Bmc Medical Genetics, 2017

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.

Hasdemir C et al.

Heart Rhythm, 2015

Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.

Phani NM et al.

Plos One, 2014

Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.

Fedele F et al.

Basic Research in Cardiology, 2013

Sequencing genes in silico using single nucleotide polymorphisms.

Zhang XC et al.

Bmc Genetics, 2012

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Edghill EL et al.

Diabetes, 2004

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL et al.

The New England Journal of Medicine, 2004

Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro.

Sakura H et al.

Diabetologia, 1996

Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

Rangaraju A et al.

Indian Pacing and Electrophysiology Journal, 0

STUDY OF KCNJ11 GENE MUTATIONS IN ASSOCIATION WITH MONOGENIC DIABETES OF INFANCY AND RESPONSE TO SULFONYLUREA TREATMENT IN A COHORT STUDY IN EGYPT.

Madani HA et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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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."