SEC31A
Chr 4ARSEC31 homolog A, COPII component
Also known as: ABP125, ABP130, HPBKS, HSPC275, HSPC334, NEDSOSB, SEC31L1
SEC31A encodes a component of the COPII coat protein complex that promotes formation of transport vesicles from the endoplasmic reticulum to the Golgi apparatus. Mutations cause Halperin-Birk syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.44), indicating intolerance to functional disruption.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
272 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 | 1 | 0 | 33 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 112 | 41 | 0 | 154 |
Likely Benign | 1 | 3 | 4 | 9 | 17 |
Benign | 0 | 3 | 4 | 3 | 10 |
| Total | 3 | 118 | 85 | 12 | 218 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SEC31A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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