Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G873S
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KCNH2

NM_000238.4:p.G873S

Associated Papers

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

Thomson KL et al.

Hgg Advances, 2024

38219013 (PubMed )
Supplement: mmc2.xlsx › Table_S1_Variant_Controls

A Heterozygous Missense hERG Mutation Associated with Early Repolarization Syndrome.

Cheng YJ et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality.

Ghouse J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

Wang QI et al.

Journal of Cardiovascular Electrophysiology, 2014

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

Risgaard B et al.

Clinical Genetics, 2013

Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.

Bébarová M

International Journal of Cardiology, 2013

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

Cardiac metabolic state and Brugada syndrome: a link revealed.

Chahine M

Circulation Research, 2009

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome.

Verkerk AO et al.

Cardiovascular Research, 2005

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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."