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gene: SCN3A

id6328
symbolSCN3A
organismHomo sapiens
full namesodium voltage-gated channel alpha subunit 3
summaryVoltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
variant-disease

NM_006922.3(SCN3A):c.2547A>C (p.Val849=) AND not specified

NM_006922.3(SCN3A):c.552G>A (p.Thr184=) AND not specified

NM_006922.3(SCN3A):c.5584G>T (p.Gly1862Cys) AND not specified

NM_006922.3(SCN3A):c.3253A>G (p.Ile1085Val) AND not provided

NM_006922.3(SCN3A):c.127_129delAAT (p.Asn43del) AND not specified

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