BRAT1
Chr 7ARBRCA1 associated ATM activator 1
Also known as: BAAT1, C7orf27, NEDCAS, RMFSL
This protein interacts with BRCA1 and ATM proteins in DNA damage response pathways and is involved in cell cycle checkpoint signaling. Biallelic mutations cause autosomal recessive neurodevelopmental disorders ranging from lethal neonatal rigidity with multifocal seizures to milder presentations with cerebellar atrophy and variable seizures. The pathogenic mechanism involves loss of function, as the gene shows tolerance to heterozygous loss-of-function variants but requires biallelic mutations for disease manifestation.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BRAT1 · 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