Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D411Y
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KCNH2

NM_000238.4:p.D411Y

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

Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.

Leung HT et al.

Pediatric Cardiology, 2024

Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.

Mak CM et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2018

Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?

Izumi G et al.

Pediatric Cardiology, 2016

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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."