Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P846S
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KCNH2

NM_000238.4:p.P846S

Associated Papers

Prevalence, risk factors, and outcomes of QT prolongation in primary and RASopathy-associated hypertrophic cardiomyopathy.

Österberg AW et al.

Heart Rhythm, 2025

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

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

Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease.

Ebrahim MA et al.

The American Journal of Cardiology, 2017

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

Anderson CL et al.

Nature Communications, 2014

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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."