USP17L28
Chr 4ubiquitin specific peptidase 17 like family member 28
This protein functions as a deubiquitinating enzyme that removes ubiquitin from target proteins and binds RNA and hyaluronic acid, regulating cellular processes including apoptosis, cell cycle progression, and viral responses. Currently, no established Mendelian diseases have been definitively linked to mutations in this gene in pediatric patients.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
76 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 67 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 4 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 76 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
USP17L28 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools