Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.A582T
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SCN11A

NM_001349253.2:p.A582T

Associated Papers

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Almomani R et al.

International Journal of Molecular Sciences, 2023

37175987 (PubMed )
Supplement: ijms-24-08278-s001.zip › ijms-2239683-supplementary.pdf

Inhibition of the Human Neuronal Sodium Channel Nav1.9 by Arachidonyl-2-Chloroethylamide, An Analogue of Anandamide in a hNav1.9/rNav1.4 Chimera, An Experimental and in Silico Study.

Marchese-Rojas M et al.

Neuroscience, 2023

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.

Castoro R et al.

Neurology. Genetics, 2018

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Sambuughin N et al.

Case Reports in Genetics, 2018

30533233 (PubMed )
Supplement: 6898546.f1.pdf

Electrophysiological and Pharmacological Analyses of Nav1.9 Voltage-Gated Sodium Channel by Establishing a Heterologous Expression System.

Zhou X et al.

Frontiers in Pharmacology, 2017

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Phatarakijnirund V et al.

Bone, 2016

NaV1.9: a sodium channel linked to human pain.

Dib-Hajj SD et al.

Nature Reviews. Neuroscience, 2015

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

Huang J et al.

Brain : a Journal of Neurology, 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."