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OTUB2

Synonyms
C14orf137, OTB2, OTU2
External resources
Summary
This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain.

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
2,971
Likely benign
1,092
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on OTUB2 gene.

Phenotype class
Patients in 3billion (%)

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