The BRCA1 gene homepage

General information
Gene symbol BRCA1
Gene name BRCA1, DNA repair associated
Chromosome 17
Chromosomal band q21.31
Imprinted Not imprinted
Genomic reference NG_005905.2
Transcript reference NM_007294.3, NM_007294.4
Associated with diseases -
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (7) Instituto Nacional del Cancer, Ivo, Lina Nuñez-Hospital Alemán, Lina Nuñez-Private Practice, Pablo Kalfayan - Consultorio Particular., Pablo Kalfayan-CEMIC, and Pablo Kalfayan-Hospital Italiano
Total number of public variants reported 2978
Unique public DNA variants reported 193
Individuals with public variants 580
Hidden variants 40
Date created May 31, 2016
Date last updated December 31, 1969
Version BRCA1:691231

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 1100
Entrez Gene 672
PubMed articles BRCA1
OMIM - Gene 113705

Active transcripts




NCBI ID     

NCBI Protein ID     

00000001 17 breast cancer 1, early onset, transcript variant 1 NM_007294.3 NP_009225.1 2960
00000115 17 transcript variant 1 NM_007294.4 NP_009225.1 18

Copyright & disclaimer
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