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TP53BP2

Synonyms
53BP2, ASPP2, BBP, P53BP2, PPP1R13A
External resources
Summary
This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
5,978
Likely benign
1,504
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TP53BP2 gene.

Phenotype class
Patients in 3billion (%)

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