rs60158447

This is a protein-altering variant in the IRF2BP1 gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

About IRF2BP1

Enables transcription corepressor activity and ubiquitin protein ligase activity. Involved in protein polyubiquitination. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [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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