Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D466A
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KCNH2

NM_000238.4:p.D466A

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

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.

Alameh M et al.

Frontiers in Physiology, 2023

36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants

Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.

Gardner A et al.

Molecular Pharmacology, 2017

Molecular determinants of pentamidine-induced hERG trafficking inhibition.

Dennis AT et al.

Molecular Pharmacology, 2012

Cooperative interactions between R531 and acidic residues in the voltage sensing module of hERG1 channels.

Piper DR et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2008

Molecular mapping of a site for Cd2+-induced modification of human ether-à-go-go-related gene (hERG) channel activation.

Fernandez D et al.

The Journal of Physiology, 2005

Differences between ion binding to eag and HERG voltage sensors contribute to differential regulation of activation and deactivation gating.

Lin MC et al.

Channels (austin, Tex.), 0

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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."