Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A350S
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KCNH2

NM_000238.4:p.A350S

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

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hedberg-Oldfors C et al.

Human Molecular Genetics, 2019

30715372 (PubMed )
Supplement: ddz032_supp.zip › HMG-2018-D-01045_Hedberg-Oldfors_Supplemental_data.docx
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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."