Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.V872G
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SCN9A

NM_001365536.1:p.V872G

Associated Papers

Towards development of Nav1.7 channel modulators for pain treatment: A comparison of mexiletine effect in two cell models by automated patch clamp.

Cerchiara AG et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Clinical Challenges in Primary Erythromelalgia: a Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal.

Michelerio A et al.

Dermatology Practical & Conceptual, 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

Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.

Toffano AA et al.

Scientific Reports, 2020

33087732 (PubMed )
Supplement: 41598_2020_74591_MOESM1_ESM.pdf

Mining the Nav1.7 interactome: Opportunities for chronic pain therapeutics.

Chew LA et al.

Biochemical Pharmacology, 2019

Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia.

Wang WH et al.

Journal of Vascular Surgery, 2018

[Erythromelalgia: Diagnosis and therapeutic approach].

Miranda S et al.

La Revue De Medecine Interne, 2017

Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.

Koenig J et al.

Plos One, 2015

26035178 (PubMed )
Supplement: pone.0128830.s001.docx

Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.

Lampert A et al.

Handbook of Experimental Pharmacology, 2014

A new Nav1.7 mutation in an erythromelalgia patient.

Estacion M et al.

Biochemical and Biophysical Research Communications, 2013

The Na(V)1.7 sodium channel: from molecule to man.

Dib-Hajj SD et al.

Nature Reviews. Neuroscience, 2013

Neurological perspectives on voltage-gated sodium channels.

Eijkelkamp N et al.

Brain : a Journal of Neurology, 2012

Familial pain syndromes from mutations of the NaV1.7 sodium channel.

Fischer TZ et al.

Annals of the New York Academy of Sciences, 2010

Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship.

Schorge S et al.

Brain : a Journal of Neurology, 2009

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

Choi JS et al.

Experimental Neurology, 2009

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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."