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gene: SCN9A

id6335
symbolSCN9A
organismHomo sapiens
full namesodium voltage-gated channel alpha subunit 9
summaryThis gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
variant-disease

NM_002977.3(SCN9A):c.601T>G (p.Leu201Val) AND Primary erythromelalgia

NM_002977.3(SCN9A):c.444A>G (p.Pro148=) AND Generalized epilepsy with febrile seizures plus

NM_002977.3(SCN9A):c.-283G>C AND Familial Febrile Seizures

NM_002977.3(SCN9A):c.-339G>C AND Severe myoclonic epilepsy in infancy

NM_002977.3(SCN9A):c.174G>A (p.Gln58=) AND Paroxysmal extreme pain disorder

... 1838 more


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