SMARCA1
Chr XSNF2 related chromatin remodeling ATPase 1
Also known as: ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2
This gene encodes an ATPase that serves as the catalytic subunit of ISWI chromatin-remodeling complexes, which regulate nucleosome spacing and facilitate DNA replication, transcription, and repair. Mutations cause autosomal dominant neurodevelopmental disorders affecting brain development and neurite outgrowth. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.137), indicating that such variants are likely to be pathogenic.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
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
SMARCA1 · 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