rs200191034

This variant is located in the RASA2 gene.

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ClinVar annotation

Likely Benign★★★☆

8 submitters2 publications

not specified; not provided; RASA2-related disorder

About RASA2

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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