Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G546C
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KCNH2

NM_000238.4:p.G546C

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

Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.

Hunter DV et al.

Advances in Experimental Medicine and Biology, 2026

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

Mapping of interactions between the N- and C-termini and the channel core in HERG K+ channels.

de la Peña P et al.

The Biochemical Journal, 2013

HERG potassium channel regulation by the N-terminal eag domain.

Gustina AS et al.

Cellular Signalling, 2012

Molecular determinants of interactions between the N-terminal domain and the transmembrane core that modulate hERG K+ channel gating.

Fernández-Trillo J et al.

Plos One, 2011

Mutations within the S4-S5 linker alter voltage sensor constraints in hERG K+ channels.

Van Slyke AC et al.

Biophysical Journal, 2010

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

Regulation of deactivation by an amino terminal domain in human ether-à-go-go-related gene potassium channels.

Wang J et al.

The Journal of General Physiology, 1998

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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."