Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A429P
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KCNH2

NM_000238.4:p.A429P

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

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

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

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

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

Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.

Frontera A et al.

Journal of the American Heart Association, 2019

Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Villa C et al.

Frontiers in Cellular Neuroscience, 2016

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.

Keller DI et al.

The Canadian Journal of Cardiology, 2009

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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."