Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.E444K
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KCNH2

NM_000238.4:p.E444K

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

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

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.

Sveinbjornsson G et al.

Journal of the American Heart Association, 2023

37449562 (PubMed )
Supplement: JAH3-12-e029845-s001.pdf

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

Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk.

Mann SA et al.

Journal of the American College of Cardiology, 2012

Repolarization recipes for atrial fibrillation: beyond single channel variants.

Darbar D et al.

Journal of the American College of Cardiology, 2012

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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."