Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S613F
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SCN5A

NM_000335.5:p.S613F

Associated Papers

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C et al.

Journal of Arrhythmia, 2016

27920829 (PubMed )
Supplement: mmc2.docx

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

Johnson JN et al.

Neurology, 2009

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Saprungruang A et al.

Indian Pacing and Electrophysiology Journal, 0

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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."