rs2534048828

This variant is located in the RAC1 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Intellectual disability, autosomal dominant 48

View on ClinVar →

About RAC1

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

View all RAC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…