Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.R27C
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KCNE2

NM_172201.2:p.R27C

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

The Multifunctional Role of KCNE2: From Cardiac Arrhythmia to Multisystem Disorders.

Song M et al.

Cells, 2024

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Belletti R et al.

Frontiers in Physiology, 2021

RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.

Liatakis I et al.

American Journal of Cardiovascular Disease, 2021

The molecular genetic basis of atrial fibrillation.

Huang X et al.

Human Genetics, 2020

The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.

Liu X et al.

Molecular Genetics & Genomic Medicine, 2019

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28518168 (PubMed )
Supplement: gim201726x1.pdf

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Roberts JD et al.

Circulation. Arrhythmia and Electrophysiology, 2017

Genotype influence in responses to therapy for atrial fibrillation.

Huang H et al.

Expert Review of Cardiovascular Therapy, 2016

The KCNE2 K⁺ channel regulatory subunit: Ubiquitous influence, complex pathobiology.

Abbott GW

Gene, 2015

KCNE2 modulates cardiac L-type Ca(2+) channel.

Liu W et al.

Journal of Molecular and Cellular Cardiology, 2014

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Mink S38G gene polymorphism and atrial fibrillation in the Chinese population: a meta-analysis of 1871 participants.

Li YY et al.

Thescientificworldjournal, 2014

Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.

Gaunt TR et al.

Circulation. Cardiovascular Genetics, 2012

23139254 (PubMed )
Supplement: 962852_supplemental_material.pdf

Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.

Henrion U et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2012

Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.

Shimizu W et al.

Circulation Research, 2011

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Harkcom WT et al.

Expert Review of Cardiovascular Therapy, 2010

Genetics of atrial fibrillation.

Lubitz SA et al.

Heart Failure Clinics, 2010

Genetics of familial atrial fibrillation.

Campuzano O et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2009

Dynamic partnership between KCNQ1 and KCNE1 and influence on cardiac IKs current amplitude by KCNE2.

Jiang M et al.

The Journal of Biological Chemistry, 2009

Regulation of the Kv2.1 potassium channel by MinK and MiRP1.

McCrossan ZA et al.

The Journal of Membrane Biology, 2009

Genetics of atrial fibrillation.

Lubitz SA et al.

Cardiology Clinics, 2009

Molecular genetics of atrial fibrillation.

Tsai CT et al.

Journal of the American College of Cardiology, 2008

Atrial fibrillation--a new cardiac channelopathy.

Otway R et al.

Heart, Lung & Circulation, 2007

Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.

Shen Y et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2007

Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21.

Volders PG et al.

Heart Rhythm, 2007

Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation?

Otway R et al.

Journal of the American College of Cardiology, 2007

The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population.

Zeng Z et al.

Cardiology, 2007

KCNE beta subunits determine pH sensitivity of KCNQ1 potassium channels.

Heitzmann D et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2007

[Genetics of atrial fibrillation: rare mutations, common variants and clinical relevance?].

Sinner MF et al.

Herzschrittmachertherapie & Elektrophysiologie, 2006

Mechanisms of disease: Genetic mechanisms of atrial fibrillation.

Roberts R

Nature Clinical Practice. Cardiovascular Medicine, 2006

Gene-specific therapy for inherited arrhythmogenic diseases.

Napolitano C et al.

Pharmacology & Therapeutics, 2006

Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.

Koo SH et al.

British Journal of Clinical Pharmacology, 2006

Pharmacogenetics and cardiac ion channels.

Roepke TK et al.

Vascular Pharmacology, 2006

Genomics and cardiac arrhythmias.

Roberts R

Journal of the American College of Cardiology, 2006

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

Hong K et al.

Cardiovascular Research, 2005

[The association of single nucleotide polymorphism of slow delayed rectifier K+ channel genes with atrial fibrillation in Han nationality Chinese].

Zeng ZY et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2005

Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

Yang Y et al.

American Journal of Human Genetics, 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."