Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Y475N
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KCNH2

NM_000238.4:p.Y475N

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

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

41026531 (PubMed )
Supplement: jciinsight-10-191697-s190.xlsx › Figure_6B
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