rs141321984

This variant is located in the RFWD3 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; RFWD3-related disorder; not specified

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About RFWD3

Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of double-strand break. Implicated in Fanconi anemia complementation group W. [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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