Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.C896S
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SCN5A

NM_000335.5:p.C896S

Associated Papers

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Tarradas A et al.

Plos One, 2013

23308164 (PubMed )
Supplement: pone.0053220.s002.doc

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C et al.

Electrophoresis, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

Schulze-Bahr E et al.

Human Mutation, 2003

Genetic control of sodium channel function.

Tan HL et al.

Cardiovascular Research, 2003

[Brugada's syndrome: epidemiology, risk stratification, and clinical management].

Grillo M et al.

Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2002

Natural history of Brugada syndrome: insights for risk stratification and management.

Priori SG et al.

Circulation, 2002

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 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."