Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.I1706V
Back to variants list

SCN10A

NM_006514.4:p.I1706V

Associated Papers

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

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

Loose S et al.

Pflugers Archiv : European Journal of Physiology, 2023

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Almomani R et al.

International Journal of Molecular Sciences, 2023

37175987 (PubMed )
Supplement: ijms-24-08278-s001.zip › ijms-2239683-supplementary.pdf

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

Contributions of NaV1.8 and NaV1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons.

Alsaloum M et al.

Scientific Reports, 2021

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

Chidiac C et al.

Frontiers in Pharmacology, 2021

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

Bennett DL et al.

Physiological Reviews, 2019

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Nettuwakul C et al.

Scientific Reports, 2018

Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.

Rannals MD et al.

Neuron, 2016

Painful peripheral neuropathy and sodium channel mutations.

Hoeijmakers JG et al.

Neuroscience Letters, 2015

Painful neuropathies: the emerging role of sodium channelopathies.

Brouwer BA et al.

Journal of the Peripheral Nervous System : Jpns, 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

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."