Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.L1302F
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SCN11A

NM_001349253.2:p.L1302F

Associated Papers

Charcot-Marie-Tooth disease and related neuropathies.

Burns J et al.

Nature Reviews. Disease Primers, 2026

Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.

Nagao C et al.

Biochemical Genetics, 2025

Understanding the genetic basis of congenital insensitivity to pain.

Drissi I et al.

British Medical Bulletin, 2020

Spider venom-derived peptide induces hyperalgesia in Nav1.7 knockout mice by activating Nav1.9 channels.

Zhou X et al.

Nature Communications, 2020

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

Bennett DL et al.

Physiological Reviews, 2019

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.

Huang J et al.

Frontiers in Neuroscience, 2019

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

Castoro R et al.

Neurology. Genetics, 2018

SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients.

Sun J et al.

Medicine, 2017

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.

King MK et al.

Neurogenetics, 2017

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Huang J et al.

The Journal of Clinical Investigation, 2017

[Pain and analgesia : Mutations of voltage-gated sodium channels].

Eberhardt MJ et al.

Schmerz (berlin, Germany), 2017

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

Sisters with No Pain, No Tears: A Report of a New Variant of Hereditary Sensory and Autonomic Neuropathy (Type IX) Caused by a Novel SCN11A Mutation.

Poojary S et al.

Indian Journal of Dermatology, 0

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