rs63749091

This variant is located in the AKIRIN2 gene.

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

About AKIRIN2

Enables enzyme binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Involved in proteasome localization and protein import into nucleus. Acts upstream of with a positive effect on nuclear protein quality control by the ubiquitin-proteasome system. Located in nucleoplasm. Is active in nucleus. [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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