Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A190S
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KCNH2

NM_000238.4:p.A190S

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

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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