VPS36
Chr 13vacuolar protein sorting 36 homolog
Also known as: C13orf9, CGI-145, EAP45
This protein is a subunit of the ESCRT-II complex that sorts ubiquitinated membrane proteins for lysosomal degradation and forms multivesicular bodies during endocytosis. Mutations cause autosomal recessive early infantile epileptic encephalopathy, characterized by severe seizures and developmental delays beginning in infancy. The gene shows moderate constraint against loss-of-function variants, consistent with its role in essential cellular trafficking processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
121 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 | 56 | 0 | 56 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 41 | 10 | 0 | 51 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 43 | 68 | 0 | 111 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
VPS36 · 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 →External Resources
Links to major genomics databases and tools