SEC16A
Chr 9SEC16 homolog A, endoplasmic reticulum export factor
Also known as: KIAA0310, SEC16L, p250
The protein acts as a molecular scaffold that organizes endoplasmic reticulum exit sites and is required for secretory cargo trafficking from the ER to the Golgi apparatus. Mutations cause autosomal recessive developmental delay, intellectual disability, and seizures with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants, suggesting intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
ClinVar Variant Classifications
300 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 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 225 | 2 | 0 | 228 |
Likely Benign | 0 | 16 | 0 | 1 | 17 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 241 | 8 | 1 | 251 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SEC16A · 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