Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Y597C
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KCNH2

NM_000238.4:p.Y597C

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

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

41026531 (PubMed )
Supplement: jciinsight-10-191697-s189.pdf

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

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

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Zhang Y et al.

Frontiers in Pharmacology, 2022

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

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

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

Gardner A et al.

Molecular Pharmacology, 2017

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

Anderson CL et al.

Nature Communications, 2014

Probing the outer mouth structure of the HERG channel with peptide toxin footprinting and molecular modeling.

Tseng GN et al.

Biophysical Journal, 2007

Structural and functional role of the extracellular s5-p linker in the HERG potassium channel.

Liu J et al.

The Journal of General Physiology, 2002

Unique interaction of scorpion toxins with the hERG channel.

Korolkova YV et al.

Journal of Molecular Recognition : Jmr, 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."