Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.G699R
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SCN11A

NM_001349253.2:p.G699R

Associated Papers

Role of mutation G255A in modulating pyrethroid sensitivity in insect sodium channels.

Liu K et al.

International Journal of Biological Macromolecules, 2025

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

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

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.

Baker MD et al.

Pflugers Archiv : European Journal of Physiology, 2020

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.

Karolak JA et al.

Peerj, 2020

32328353 (PubMed )
Supplement: peerj-08-8982-s002.xls › ES_Variants_

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

Bennett DL et al.

Physiological Reviews, 2019

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

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

Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

Kabata R et al.

Plos One, 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

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

The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.

Han C et al.

Neuromolecular Medicine, 2015

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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."