Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.S509P
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SCN10A

NM_006514.4:p.S509P

Associated Papers

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.

Fan J et al.

Frontiers in Cardiovascular Medicine, 2024

38450374 (PubMed )
Supplement: Table9.xls › Sheet2

Common variants in SCN10A gene associated with Brugada syndrome.

Huang Y et al.

Human Molecular Genetics, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.

Macri V et al.

Circulation. Genomic and Precision Medicine, 2018

Homozygosity for the SCN10A Polymorphism rs6795970 Is Associated With Hypoalgesic Inflammatory Bowel Disease Phenotype.

Gonzalez-Lopez E et al.

Frontiers in Medicine, 2018

NaV channel variants in patients with painful and nonpainful peripheral neuropathy.

Wadhawan S et al.

Neurology. Genetics, 2017

Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population.

Zhang L et al.

International Journal of Legal Medicine, 2017

A SCN10A SNP biases human pain sensitivity.

Duan G et al.

Molecular Pain, 2016

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

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2015

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-

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 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."