GENETIC ENCYCLOPEDIA
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gene: SCN4B

id6330
symbolSCN4B
organismHomo sapiens
full namesodium voltage-gated channel beta subunit 4
summaryThe protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
variant-disease

NM_174934.3(SCN4B):c.199C>T (p.Arg67Trp) AND not specified

NM_174934.3(SCN4B):c.632C>G (p.Thr211Arg) AND not specified

NM_174934.3(SCN4B):c.112G>C (p.Ala38Pro) AND not provided

NM_174934.3(SCN4B):c.607G>A (p.Val203Met) AND not provided

NM_174934.3(SCN4B):c.194A>T (p.His65Leu) AND not specified

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