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gene: CACNB1

id782
symbolCACNB1
organismHomo sapiens
full namecalcium voltage-gated channel auxiliary subunit beta 1
summaryThe protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
variant-disease

NM_000723.5(CACNB1):c.649-4C>A AND not specified

GRCh37/hg19 17q12(chr17:37313691-37868516)x3 AND See cases

GRCh37/hg19 17q12(chr17:37190609-37868002)x3 AND not provided

GRCh38/hg38 17q12(chr17:39036037-39694679)x3 AND See cases

GRCh37/hg19 17q12(chr17:36972794-38033708)x4 AND not provided

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