rs758120574
This variant is located in the STUB1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout STUB1
This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
View all STUB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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