rs780301447
This variant is located in the CABIN1 gene.
▶ClinVar annotation
About CABIN1
Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
View all CABIN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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