Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.I381T
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SCN11A

NM_001349253.2:p.I381T

Associated Papers

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

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

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Familial Episodic Pain Syndromes.

Shen Y et al.

Journal of Pain Research, 2022

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

The Role of Voltage-Gated Sodium Channels in Pain Signaling.

Bennett DL et al.

Physiological Reviews, 2019

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

Paroxysmal limb intolerable pain (infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome).

Noguchi A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2017

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Han C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

Voltage-gated sodium channels and pain-related disorders.

Kanellopoulos AH et al.

Clinical Science (london, England : 1979), 2016

Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief.

Emery EC et al.

Expert Opinion on Therapeutic Targets, 2016

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

Okuda H et al.

Plos One, 2016

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

Leipold E et al.

Nature Communications, 2015

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

Dib-Hajj SD et al.

Nature Reviews. Neuroscience, 2015

Painful peripheral neuropathy and sodium channel mutations.

Hoeijmakers JG et al.

Neuroscience Letters, 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

Voltage-gated sodium channel mutations and painful neuropathy: Na(v)1.9 joins the family.

Bennett DL

Brain : a Journal of Neurology, 2014

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