rs2488447559

This variant is located in the ABI2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ABI2

Enables several functions, including SH3 domain binding activity; proline-rich region binding activity; and ubiquitin protein ligase binding activity. Contributes to small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; positive regulation of cellular component organization; and zonula adherens assembly. Acts upstream of or within peptidyl-tyrosine phosphorylation. Located in several cellular components, including actin filament; filopodium tip; and lamellipodium. Part of SCAR complex. Is active in adherens junction. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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