Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Y545C
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KCNH2

NM_000238.4:p.Y545C

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

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Participation of HERG channel cytoplasmic structures on regulation by the G protein-coupled TRH receptor.

Alonso-Ron C et al.

Pflugers Archiv : European Journal of Physiology, 2009

Thermodynamic and kinetic properties of amino-terminal and S4-S5 loop HERG channel mutants under steady-state conditions.

Alonso-Ron C et al.

Biophysical Journal, 2008

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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."