USP17L27
Chr 4ubiquitin specific peptidase 17 like family member 27
This gene encodes a deubiquitinating enzyme that removes ubiquitin from target proteins and binds RNA and hyaluronic acid, regulating cellular processes including cell cycle progression, apoptosis, and response to viral infection. Currently, no established human diseases have been definitively linked to mutations in USP17L27. The clinical significance of variants in this gene remains to be determined.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
201 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 67 | 0 | 67 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 121 | 5 | 0 | 126 |
Likely Benign | 0 | 1 | 5 | 0 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 122 | 79 | 0 | 201 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
USP17L27 · 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