Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.Q886E
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SCN9A

NM_001365536.1:p.Q886E

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

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

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

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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."