Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.S211P
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SCN9A

NM_001365536.1:p.S211P

Associated Papers

Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.

Li Y et al.

The Journal of Investigative Dermatology, 2026

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

Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

Huang G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Hydropathicity-based prediction of pain-causing NaV1.7 variants.

Xenakis MN et al.

Bmc Bioinformatics, 2021

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

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

Bennett DL et al.

Physiological Reviews, 2019

Nonlinear effects of hyperpolarizing shifts in activation of mutant Nav1.7 channels on resting membrane potential.

Estacion M et al.

Journal of Neurophysiology, 2017

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D et al.

Bmc Systems Biology, 2017

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

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

Dib-Hajj SD et al.

Nature Reviews. Neuroscience, 2013

A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.

Wu MT et al.

Plos One, 2013

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

Skeik N et al.

Vascular Medicine (london, England), 2012

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

Estacion M et al.

Molecular Pain, 2011

Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation.

Estacion M et al.

The Journal of Physiology, 2010

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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."