Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.N38D
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KCNH2

NM_000238.4:p.N38D

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 › Alpha_missense___REVEL

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_S2

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

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.

Wedekind H et al.

International Journal of Legal Medicine, 2006

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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."