Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.L554P
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SCN10A

NM_006514.4:p.L554P

Associated Papers

How to differentiate induced pluripotent stem cells into sensory neurons for disease modelling: a functional assessment.

Kalia AK et al.

Stem Cell Research & Therapy, 2024

Pharmacologic Characterization of LTGO-33, a Selective Small Molecule Inhibitor of the Voltage-Gated Sodium Channel NaV1.8 with a Unique Mechanism of Action.

Gilchrist JM et al.

Molecular Pharmacology, 2024

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

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

Chan ACY et al.

Muscle & Nerve, 2023

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Themistocleous AC et al.

Brain Communications, 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

Familial Episodic Pain Syndromes.

Shen Y et al.

Journal of Pain Research, 2022

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

Chidiac C et al.

Frontiers in Pharmacology, 2021

Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief.

Emery EC et al.

Expert Opinion on Therapeutic Targets, 2016

Painful peripheral neuropathy and sodium channel mutations.

Hoeijmakers JG et al.

Neuroscience Letters, 2015

Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.

Zhang Z et al.

Scandinavian Journal of Pain, 2014

Exon 11 skipping of SCN10A coding for voltage-gated sodium channels in dorsal root ganglia.

Schirmeyer J et al.

Channels (austin, Tex.), 2014

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

Huang J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Gain-of-function Nav1.8 mutations in painful neuropathy.

Faber CG et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."