Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R528Q
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KCNH2

NM_000238.4:p.R528Q

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

Voltage sensor conformations induced by LQTS-associated mutations in hERG potassium channels.

Chan AN et al.

Nature Communications, 2025

Voltage Sensor Conformations Induced by LQTS-associated Mutations in hERG Potassium Channels.

Chan AN et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Transfer of rolf S3-S4 linker to HERG eliminates activation gating but spares inactivation.

Choveau FS et al.

Biophysical Journal, 2009

Tryptophan scanning mutagenesis of the HERG K+ channel: the S4 domain is loosely packed and likely to be lipid exposed.

Subbiah RN et al.

The Journal of Physiology, 2005

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."