EXOC3
Chr 5exocyst complex component 3
Also known as: SEC6, SEC6L1, Sec6p
EXOC3 encodes a component of the exocyst complex that docks exocytic vesicles with fusion sites on the plasma membrane and is essential for epithelial cell surface polarity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is highly constrained against loss-of-function variants, reflecting its essential cellular role.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
100 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 | 47 | 0 | 47 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 39 | 8 | 0 | 47 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 1 | 0 | 2 | 3 |
| Total | 0 | 41 | 56 | 3 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EXOC3 · 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