Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A561P
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KCNH2

NM_000238.4:p.A561P

Associated Papers

SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.

Chatelain FC 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, 2026

41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › All_missense_variants

Long QT: Time to cut cholesterol?

Li J et al.

International Journal of Cardiology. Heart & Vasculature, 2023

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.

Alameh M et al.

Frontiers in Physiology, 2023

Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Song Y et al.

Frontiers in Cardiovascular Medicine, 2022

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Zhang Y et al.

Frontiers in Pharmacology, 2022

KCNQ1 Antibodies for Immunotherapy of Long QT Syndrome Type 2.

Maguy A et al.

Journal of the American College of Cardiology, 2020

The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

Pourrier M et al.

International Journal of Molecular Sciences, 2020

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Mesquita FCP et al.

Scientific Reports, 2019

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Molecular Pathophysiology of Congenital Long QT Syndrome.

Bohnen MS et al.

Physiological Reviews, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.

Samol A et al.

Plos One, 2016

Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.

Jouni M et al.

Journal of the American Heart Association, 2015

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL et al.

Nature Communications, 2014

In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.

Romero L et al.

Journal of Molecular and Cellular Cardiology, 2014

Current pharmacogenomic studies on hERG potassium channels.

He FZ et al.

Trends in Molecular Medicine, 2013

Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.

Visscher H et al.

Journal of Cardiovascular Pharmacology, 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

Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

Itoh H et al.

Circulation. Arrhythmia and Electrophysiology, 2009

Genetic polymorphisms and arrhythmia susceptibility.

Makita N et al.

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

Pharmacogenetics and cardiac ion channels.

Roepke TK et al.

Vascular Pharmacology, 2006

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2.

Bellocq C et al.

Molecular Pharmacology, 2004

Prolonged atrial action potential durations and polymorphic atrial tachyarrhythmias in patients with long QT syndrome.

Kirchhof P et al.

Journal of Cardiovascular Electrophysiology, 2003

Susceptibility genes & modifiers for cardiac arrhythmias.

Schulze-Bahr E

Progress in Biophysics and Molecular Biology, 0

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