Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R14L
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SCN5A

NM_000335.5:p.R14L

Associated Papers

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

Campuzano O et al.

Human Mutation, 2019

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Abou Ziki MD et al.

Clinical Genetics, 2018

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Chen CJ et al.

Frontiers in Genetics, 2018

Common and rare variants in SCN10A modulate the risk of atrial fibrillation.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2015

SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.

Savio-Galimberti E et al.

Cardiovascular Research, 2014

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

Hu D et al.

Journal of the American College of Cardiology, 2014

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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."