Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.D1639N
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SCN10A

NM_006514.4:p.D1639N

Associated Papers

Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels.

Loose S et al.

Pflugers Archiv : European Journal of Physiology, 2023

Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond.

Chan ACY et al.

Muscle & Nerve, 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

The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity.

Chidiac C et al.

Frontiers in Pharmacology, 2021

Impact of the NaV1.8 variant, A1073V, on post-sigmoidectomy pain and electrophysiological function in rat sympathetic neurons.

Coates MD et al.

Journal of Neurophysiology, 2019

Loss-of-function of Nav1.8/D1639N linked to human pain can be rescued by lidocaine.

Kaluza L et al.

Pflugers Archiv : European Journal of Physiology, 2018

Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene.

Dabby R et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2016

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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."