Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.H886Q
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SCN5A

NM_000335.5:p.H886Q

Associated Papers

Genetic Testing in Brugada Syndrome: A 30-Year Experience.

Pannone L et al.

Circulation. Arrhythmia and Electrophysiology, 2024

38426305 (PubMed )
Supplement: circae_circae-2023-012374_supp1.pdf

Genetic testing in children with Brugada syndrome: results from a large prospective registry.

Pannone L et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S3

Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.

Robyns T et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2018

pH Modulation of Voltage-Gated Sodium Channels.

Peters CH et al.

Handbook of Experimental Pharmacology, 2018

Proton sensors in the pore domain of the cardiac voltage-gated sodium channel.

Jones DK et al.

The Journal of Biological Chemistry, 2013

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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."