Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R537Q
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KCNH2

NM_000238.4:p.R537Q

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

The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.

Dou Y et al.

Biophysical Journal, 2017

Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.

Cheng YM et al.

The Journal of General Physiology, 2013

Molecular basis of slow activation of the human ether-a-go-go related gene potassium channel.

Subbiah RN et al.

The Journal of Physiology, 2004

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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."