rs2523478882

This variant is located in the GAB3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About GAB3

This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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