BAZ1B
Chr 7bromodomain adjacent to zinc finger domain 1B
This gene encodes a chromatin remodeling protein that regulates transcription and DNA repair through ATP-dependent nucleosome repositioning and histone phosphorylation. BAZ1B is deleted in Williams-Beuren syndrome, a multisystem developmental disorder affecting cardiovascular, neurodevelopmental, and behavioral domains that typically presents in early childhood. The gene is highly constrained against loss-of-function variants in the general population.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BAZ1B · 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