SEC61B
Chr 9SEC61 translocon subunit beta
SEC61B encodes the beta subunit of the SEC61 translocon complex, which forms channels in the endoplasmic reticulum membrane that transport signal peptide-containing proteins across the ER membrane and insert transmembrane proteins into the ER membrane. Pathogenic variants in SEC61B have not been established as a cause of human disease. The gene shows tolerance to loss-of-function variants (pLI = 0.02, LOEUF = 1.48), suggesting haploinsufficiency is unlikely to be pathogenic.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SEC61B · 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