Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S818W
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KCNH2

NM_000238.4:p.S818W

Associated Papers

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

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

Genetic variants in Colombian patients with inherited cardiac conditions.

Rucinski C et al.

Molecular Genetics & Genomic Medicine, 2022

Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Du F et al.

Medicine, 2020

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

Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Saprungruang A et al.

Indian Pacing and Electrophysiology Journal, 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."