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UBOX5

Synonyms
RNF37, UBCE7IP5, UIP5, hUIP5
External resources
Summary
This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants.

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
3,352
Likely benign
752
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UBOX5 gene.

Phenotype class
Patients in 3billion (%)

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