Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.I206M
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SCN10A

NM_006514.4:p.I206M

Associated Papers

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

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

Campuzano O et al.

Human Mutation, 2019

Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Nettuwakul C et al.

Scientific Reports, 2018

29992996 (PubMed )
Supplement: 41598_2018_28623_MOESM1_ESM.pdf

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

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

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

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

Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Yuan JH et al.

Pain Reports, 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."