Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R744fs
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KCNH2

NM_000238.4:p.R744fs

Associated Papers

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

Structure of the Cyclic Nucleotide-Binding Homology Domain of the hERG Channel and Its Insight into Type 2 Long QT Syndrome.

Li Y et al.

Scientific Reports, 2016

Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.

Chang YS et al.

International Heart Journal, 2015

Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.

Aidery P et al.

Biochemical and Biophysical Research Communications, 2012

Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect.

Hsueh CH et al.

Biochemical and Biophysical Research Communications, 2008

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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."