SEC23B
Chr 20ADARSEC23 homolog B, COPII component
Also known as: CDA-II, CDAII, CDAN2, CWS7, HEMPAS, hSec23B
SEC23B encodes a component of the COPII coat protein complex that promotes formation of transport vesicles from the endoplasmic reticulum and selects cargo molecules for transport to the Golgi complex. Mutations cause congenital dyserythropoietic anemia type II and possibly Cowden syndrome 7, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows low constraint against loss-of-function variants, suggesting tolerance to certain types of mutations.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
400 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 | 22 | 1 | 8 | 0 | 31 |
Likely Pathogenic | 19 | 2 | 0 | 0 | 21 |
VUS | 1 | 58 | 3 | 0 | 62 |
Likely Benign | 0 | 1 | 117 | 111 | 229 |
Benign | 0 | 0 | 51 | 0 | 51 |
Conflicting | — | 6 | |||
| Total | 42 | 62 | 179 | 111 | 400 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SEC23B · 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