Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.L532P
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KCNH2

NM_000238.4:p.L532P

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

Beneficial normalization of cardiac repolarization by carnitine in transgenic short QT syndrome type 1 rabbit models.

Bodi I et al.

Cardiovascular Research, 2024

39018021 (PubMed )
Supplement: cvae149_supplementary_data.docx

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.

Li S et al.

Gene, 2024

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Hancox JC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IKr) in cardiomyocytes derived from hiPSCs.

Ukachukwu CU et al.

The Journal of Biological Chemistry, 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

36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants

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

Zhang Y et al.

Frontiers in Pharmacology, 2022

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

Belletti R et al.

Frontiers in Physiology, 2021

Molecular Insights Into the Gating Kinetics of the Cardiac hERG Channel, Illuminated by Structure and Molecular Dynamics.

Zequn Z et al.

Frontiers in Pharmacology, 2021

Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.

Zhang Y et al.

Physiological Reports, 2020

Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.

Heikhmakhtiar AK et al.

Journal of Korean Medical Science, 2020

Utility of Zebrafish Models of Acquired and Inherited Long QT Syndrome.

Simpson KE et al.

Frontiers in Physiology, 2020

Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Butler A et al.

Heliyon, 2019

An Update on the Structure of hERG.

Butler A et al.

Frontiers in Pharmacology, 2019

Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

Butler A et al.

Physiological Reports, 2018

Ranolazine inhibition of hERG potassium channels: drug-pore interactions and reduced potency against inactivation mutants.

Du C et al.

Journal of Molecular and Cellular Cardiology, 2014

24877995 (PubMed )
Supplement: mmc1.pdf

Arrhythmic potency of human ether-a-go-go-related gene mutations L532P and N588K in a computational model of human atrial myocytes.

Loewe A 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, 2014

Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.

Perry MD et al.

The Journal of General Physiology, 2013

23980196 (PubMed )
Supplement: supp_jgp.201310975_JGP_201310975_sm.pdf

Interactions between voltage sensor and pore domains in a hERG K+ channel model from molecular simulations and the effects of a voltage sensor mutation.

Colenso CK et al.

Journal of Chemical Information and Modeling, 2013

Current pharmacogenomic studies on hERG potassium channels.

He FZ et al.

Trends in Molecular Medicine, 2013

hERG K(+) channels: structure, function, and clinical significance.

Vandenberg JI et al.

Physiological Reviews, 2012

Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel.

El Harchi A et al.

Plos One, 2012

The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C.

Zhang YH et al.

Biochimica Et Biophysica Acta, 2011

Deficient zebrafish ether-à-go-go-related gene channel gating causes short-QT syndrome in zebrafish reggae mutants.

Hassel D et al.

Circulation, 2008

Computational analysis of the effect of KCNH2 L532P mutation on ventricular electromechanical behaviors.

Heikhmakhtiar AK et al.

Journal of Electrocardiology, 0

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