rs115975977
This variant is located in the CACNB1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout CACNB1
The 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]
View all CACNB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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