rs1464054531

This variant is located in the ABI3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ABI3

This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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