Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.A863P
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SCN9A

NM_002977.4:p.A863P

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

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

Toffano AA et al.

Scientific Reports, 2020

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

Kapetis D et al.

Bmc Systems Biology, 2017

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.

Imai N et al.

The Journal of Headache and Pain, 2015

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

Pain perception is altered by a nucleotide polymorphism in SCN9A.

Reimann F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

A stop codon mutation in SCN9A causes lack of pain sensation.

Ahmad S et al.

Human Molecular Genetics, 2007

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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."