The BRAT1 gene homepage

General information
Gene symbol BRAT1
Gene name BRCA1-associated ATM activator 1
Chromosome 7
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_032167.1
Transcript reference NM_152743.3
Exon/intron information NM_152743.3 exon/intron table
Associated with diseases ID, NEDCAS, RMFSL
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 66
Unique public DNA variants reported 46
Individuals with public variants 85
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version BRAT1:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_152743.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 21701
Entrez Gene 221927
PubMed articles BRAT1
OMIM - Gene 614506
OMIM - Diseases NEDCAS (neurodevelopmental disorder with cerebellar atrophy, with/without seizures (NEDCAS))
RMFSL (rigidity and multifocal seizure, lethal neonatal syndrome (RMFSL))
GeneCards BRAT1
GeneTests BRAT1
Orphanet BRAT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00003477 7 BRCA1-associated ATM activator 1 NM_152743.3 NP_689956.2 66

Copyright & disclaimer
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