rs1263333412

This variant is located in the CDC42BPA gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CDC42BPA

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]

View all CDC42BPA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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