Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R752Q
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KCNH2

NM_000238.4:p.R752Q

Associated Papers

Chemical and Genetic Knockout Identifies KCNQ2 as the Principal Background Voltage-gated Potassium Current in Human Embryonic Kidney 293 Cells.

O'Neill MJ et al.

Heart Rhythm, 2026

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

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

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

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

The human ether-a-go-go-related gene activator NS1643 enhances epilepsy-associated KCNQ channels.

Li P et al.

The Journal of Pharmacology and Experimental Therapeutics, 2014

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

Anderson CL et al.

Nature Communications, 2014

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

Schweigmann U et al.

Plos One, 2014

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

Johnson WH et al.

Pediatric Research, 2003

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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."