Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R531Q
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KCNH2

NM_000238.4:p.R531Q

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

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

Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.

Veldhuizen J et al.

Science Advances, 2022

The voltage-sensing domain of a hERG1 mutant is a cation-selective channel.

Kudaibergenova M et al.

Biophysical Journal, 2022

36815709 (PubMed )
Supplement: mmc1.pdf

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL et al.

Nature Communications, 2014

25417810 (PubMed )
Supplement: NIHMS634670-supplement-1.pdf

Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.

McBride CM et al.

The Journal of Membrane Biology, 2013

hERG K(+) channels: structure, function, and clinical significance.

Vandenberg JI et al.

Physiological Reviews, 2012

Structural refinement of the hERG1 pore and voltage-sensing domains with ROSETTA-membrane and molecular dynamics simulations.

Subbotina J et al.

Proteins, 2010

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

Choveau FS et al.

Biophysical Journal, 2009

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

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

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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."