VPS35L
Chr 16ARVPS35 endosomal protein sorting factor like
Also known as: C16orf62, EC97, RTSC3
The protein acts as a component of the retriever complex, which is essential for endosomal cargo retrieval and recycling, including transport of cell surface proteins involved in cell migration, adhesion, and signaling. Mutations cause Ritscher-Schinzel syndrome, which is inherited in an autosomal recessive pattern and typically presents in early childhood with characteristic craniofacial features, cardiac defects, and intellectual disability. This gene is highly constrained against loss-of-function variants (LOEUF 0.573), indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
91 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 | 2 | 2 | 15 | 0 | 19 |
Likely Pathogenic | 2 | 1 | 0 | 0 | 3 |
VUS | 1 | 17 | 8 | 0 | 26 |
Likely Benign | 0 | 0 | 2 | 6 | 8 |
Benign | 0 | 1 | 2 | 1 | 4 |
| Total | 5 | 21 | 27 | 7 | 60 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
VPS35L · 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