Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.L245V
Back to variants list

SCN9A

NM_001365536.1:p.L245V

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

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35696452 (PubMed )
Supplement: awac210_supplementary_data.zip › brain-2022-00093-File010.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

35878056 (PubMed )
Supplement: pnas.2209164119.sapp.pdf

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

Bennett DL et al.

Physiological Reviews, 2019

Small-fiber neuropathy: Expanding the clinical pain universe.

Sopacua M et al.

Journal of the Peripheral Nervous System : Jpns, 2019

Sodium channel slow inactivation interferes with open channel block.

Hampl M et al.

Scientific Reports, 2016

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.

Cannon A et al.

Case Reports in Neurological Medicine, 2016

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

Emery EC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."