Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.Q9E
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KCNE2

NM_172201.2:p.Q9E

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

The Challenges of Predicting Drug-Induced QTc Prolongation in Humans.

Valentin JP et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 2022

Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.

Vatta M et al.

Circulation. Genomic and Precision Medicine, 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

Disease-linked mutations alter the stoichiometries of HCN-KCNE2 complexes.

Lussier Y et al.

Scientific Reports, 2019

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

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

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

Abbott GW

Gene, 2015

A novel genetic modifier for clarithromycin-related cardiac arrhythmia risk?

Hancox JC et al.

Therapeutic Advances in Infectious Disease, 2014

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

Du C et al.

Physiological Reports, 2013

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.

Andreasen C et al.

The Canadian Journal of Cardiology, 2013

Genetics of congenital and drug-induced long QT syndromes: current evidence and future research perspectives.

Mahida S et al.

Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2013

KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?

Abbott GW

Expert Review of Clinical Pharmacology, 2013

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

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.

Eldstrom J et al.

Expert Reviews in Molecular Medicine, 2011

Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.

Visscher H et al.

Journal of Cardiovascular Pharmacology, 2011

Cardiac channelopathies and sudden infant death syndrome.

Tfelt-Hansen J et al.

Cardiology, 2011

Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

Männikkö R et al.

British Journal of Pharmacology, 2010

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.

Wu J et al.

Heart Rhythm, 2010

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD et al.

Heart Rhythm, 2009

A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance.

Gordon E et al.

Cardiovascular Research, 2008

Pharmacogenetics of drug-induced arrhythmias.

Abbott GW et al.

Expert Review of Clinical Pharmacology, 2008

Genetic polymorphisms and arrhythmia susceptibility.

Makita N et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2007

Pharmacogenetics of antiarrhythmic therapy.

Darbar D et al.

Expert Opinion on Pharmacotherapy, 2006

Pharmacogenetics and cardiac ion channels.

Roepke TK et al.

Vascular Pharmacology, 2006

Long QT syndrome: reduced repolarization reserve and the genetic link.

Roden DM

Journal of Internal Medicine, 2006

Pharmacogenetic issues in thorough QT trials.

Judson RS et al.

Molecular Diagnosis & Therapy, 2006

Drug-induced torsades de pointes: the evolving role of pharmacogenetics.

Fitzgerald PT et al.

Heart Rhythm, 2005

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Genetics of acquired long QT syndrome.

Roden DM et al.

The Journal of Clinical Investigation, 2005

Risk factors for drug-induced long-QT syndrome.

Paulussen AD et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 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

The MinK-related peptides.

McCrossan ZA et al.

Neuropharmacology, 2004

Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.

Ricardo Pérez Riera A et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2004

Human genomics and its impact on arrhythmias.

Roden DM

Trends in Cardiovascular Medicine, 2004

Pharmacogenetic considerations in diseases of cardiac ion channels.

Anantharam A et al.

The Journal of Pharmacology and Experimental Therapeutics, 2003

N-Glycosylation-dependent block is a novel mechanism for drug-induced cardiac arrhythmia.

Park KH et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2003

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

Ackerman MJ et al.

Mayo Clinic Proceedings, 2003

Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6.

Lu Y et al.

The Journal of Physiology, 2003

The incorporation of an ion channel gene mutation associated with the long QT syndrome (Q9E-hMiRP1) in a plasmid vector for site-specific arrhythmia gene therapy: in vitro and in vivo feasibility studies.

Burton DY et al.

Human Gene Therapy, 2003

[Long QT syndrome--therapy based on mechanism].

Horie M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.

Abbott GW et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2002

Molecular mechanisms underlying the long QT syndrome.

Dumaine R et al.

Current Opinion in Cardiology, 2002

Genetics and cardiac arrhythmias.

Towbin JA et al.

Advances in Pediatrics, 2002

Molecular interactions between two long-QT syndrome gene products, HERG and KCNE2, rationalized by in vitro and in silico analysis.

Mazhari R et al.

Circulation Research, 2001

KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel.

Tinel N et al.

The Embo Journal, 2000

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