Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.L1158P
Back to variants list

SCN11A

NM_001349253.2:p.L1158P

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

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

Inhibition of the Human Neuronal Sodium Channel Nav1.9 by Arachidonyl-2-Chloroethylamide, An Analogue of Anandamide in a hNav1.9/rNav1.4 Chimera, An Experimental and in Silico Study.

Marchese-Rojas M et al.

Neuroscience, 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

Characterization of Synthetic Tf2 as a NaV1.3 Selective Pharmacological Probe.

Israel MR et al.

Biomedicines, 2020

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

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.

Castoro R et al.

Neurology. Genetics, 2018

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Sambuughin N et al.

Case Reports in Genetics, 2018

30533233 (PubMed )
Supplement: 6898546.f1.pdf

NaV channel variants in patients with painful and nonpainful peripheral neuropathy.

Wadhawan S et al.

Neurology. Genetics, 2017

Paroxysmal limb intolerable pain (infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome).

Noguchi A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2017

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Han C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

Voltage-gated sodium channels and pain-related disorders.

Kanellopoulos AH et al.

Clinical Science (london, England : 1979), 2016

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

Emery EC et al.

Expert Opinion on Therapeutic Targets, 2016

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Phatarakijnirund V et al.

Bone, 2016

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

Okuda H et al.

Plos One, 2016

NaV1.9: a sodium channel linked to human pain.

Dib-Hajj SD et al.

Nature Reviews. Neuroscience, 2015

Painful peripheral neuropathy and sodium channel mutations.

Hoeijmakers JG et al.

Neuroscience Letters, 2015

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

Huang J et al.

Brain : a Journal of Neurology, 2014

Voltage-gated sodium channel mutations and painful neuropathy: Na(v)1.9 joins the family.

Bennett DL

Brain : a Journal of Neurology, 2014

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."