rs142869172
This variant is located in the USP7 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout USP7
The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
View all USP7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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