BRCA1 gene homepage

General information
Gene symbol BRCA1
Gene name BRCA1 DNA repair associated
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference LRG_292
Transcript reference NM_007294.3, NM_007297.3, NM_007298.3, NM_007299.3, NM_007300.3
Associated with diseases BrCa, BROVCA1, FANCS, PNCA4
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 1207
Unique public DNA variants reported 221
Individuals with public variants 1447
Hidden variants 0
Date created May 20, 2020
Date last updated June 14, 2022
Version BRCA1:220614

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
OMIM - Diseases BrCa (Breast Cancer)
BROVCA1 (Breast-ovarian cancer, familial, 1)
FANCS (Fanconi anemia, complementation group S)
PNCA4 (Pancreatic cancer, susceptibility to, 4)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000012 17 breast cancer 1, early onset, transcript variant 1 NM_007294.3 NP_009225.1 1207
00000014 17 breast cancer 1, early onset, transcript variant 3 NM_007297.3 NP_009228.2 1207
00000016 17 breast cancer 1, early onset, transcript variant 5 NM_007299.3 NP_009230.2 1207
00000013 17 breast cancer 1, early onset, transcript variant 2 NM_007300.3 NP_009231.2 1206
00000015 17 breast cancer 1, early onset, transcript variant 4 NM_007298.3 NP_009229.2 1203

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