Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.N588K
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KCNH2

NM_000238.4:p.N588K

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

Mechano-Electrical Feedback in Transgenic Rabbit Models of Long QT Syndrome Type 2 and Short QT Syndrome Type 1.

Alerni N 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

AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome.

Nimani S et al.

European Heart Journal, 2026

Gene-therapy in inherited channelopathies like short-QT syndrome: a robust direction towards precision medicine.

Hamdani N et al.

European Heart Journal, 2026

Noncanonical pharmacological inhibition of the hERG K+ channel by a synthetic cannabinoid.

Cheng H et al.

Biochemical Pharmacology, 2025

Molecular determinants of HERG potassium channel blockade by domiphen bromide and benzethonium chloride.

Tang F et al.

Pflugers Archiv : European Journal of Physiology, 2025

Gene Therapy for Cardiac Arrhythmias: Mechanisms, Modalities and Therapeutic Applications.

Karakasis P et al.

Medical Sciences (basel, Switzerland), 2025

Molecular insights into the rescue mechanism of an HERG activator against severe LQT2 mutations.

Kumawat A et al.

Journal of Biomedical Science, 2025

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.

Boulmpou A et al.

Journal of Personalized Medicine, 2025

40137421 (PubMed )
Supplement: jpm-15-00105-s001.zip › Supplementary_Table_S3_-_Case_series_OK.pdf

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

Martínez-Barrios E et al.

Human Genetics, 2024

Stereoselective block of the hERG potassium channel by the Class Ia antiarrhythmic drug disopyramide.

Zhang Y et al.

Cellular and Molecular Life Sciences : Cmls, 2024

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

Bodi I et al.

Cardiovascular Research, 2024

Investigating Inherited Heart Diseases Using Human Induced Pluripotent Stem Cell-Based Models.

Wang BX

Life (basel, Switzerland), 2024

MPA-MutPred: a novel strategy for accurately predicting the binding affinity change upon mutation in membrane protein complexes.

Ridha F et al.

Briefings in Bioinformatics, 2024

Potassium dependent structural changes in the selectivity filter of HERG potassium channels.

Lau CHY et al.

Nature Communications, 2024

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.

Zhao Z et al.

Ebiomedicine, 2024

Gene and stem cell therapy for inherited cardiac arrhythmias.

Zhang ZH et al.

Pharmacology & Therapeutics, 2024

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

Li S et al.

Gene, 2024

Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues.

Maurissen TL et al.

Scientific Reports, 2024

Human Genetics of Cardiac Arrhythmias.

Schulze-Bahr E et al.

Advances in Experimental Medicine and Biology, 2024

Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions.

Joshi J et al.

Frontiers in Physiology, 2024

Evaluating pro-arrhythmogenic effects of the T634S-hERG mutation: insights from a simulation study.

Hu W et al.

Interface Focus, 2023

Utilizing human induced pluripotent stem cells to study atrial arrhythmias in the short QT syndrome.

Shiti A et al.

Journal of Molecular and Cellular Cardiology, 2023

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

Inhibition of the hERG Potassium Channel by a Methanesulphonate-Free E-4031 Analogue.

Helliwell MV et al.

Pharmaceuticals (basel, Switzerland), 2023

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

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 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

Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.

Keefe JA et al.

Archives of Toxicology, 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

Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias.

Bains S et al.

Circulation. Genomic and Precision Medicine, 2022

Computational analysis of arrhythmogenesis in KCNH2 T618I mutation-associated short QT syndrome and the pharmacological effects of quinidine and sotalol.

Zhang S et al.

Npj Systems Biology and Applications, 2022

STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.

Blanch-Asensio A et al.

Cell Reports Methods, 2022

36313798 (PubMed )
Supplement: mmc1.pdf

Electromechanical reciprocity and arrhythmogenesis in long-QT syndrome and beyond.

Odening KE et al.

European Heart Journal, 2022

Research Progress and Forensic Application of Postmortem Genetic Testing in Hereditary Cardiac Diseases.

Dong YM et al.

Fa Yi Xue Za Zhi, 2022

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

Walsh R et al.

European Heart Journal, 2022

Antiarrhythmic Effects of Vernakalant in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with Short QT Syndrome Type 1.

Xu Q et al.

Journal of Cardiovascular Development and Disease, 2022

Identification through action potential clamp of proarrhythmic consequences of the short QT syndrome T618I hERG 'hotspot' mutation.

Du C et al.

Biochemical and Biophysical Research Communications, 2022

Preclinical short QT syndrome models: studying the phenotype and drug-screening.

Fan X 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, 2022

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