rs774539678

This variant is located in the OTUB2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About OTUB2

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. [provided by RefSeq, Aug 2011]

View all OTUB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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