View BRIP1 gene homepage

A Fanconi anemia mutation database.
General information
Gene symbol BRIP1
Gene name BRCA1 interacting protein C-terminal helicase 1
Chromosome 17
Chromosomal band q22.2
Imprinted Unknown
Genomic reference NG_007409.2
Transcript reference NM_032043.2
Exon/intron information NM_032043.2
Associated with diseases FANCJ, cancer, breast, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arleen D. Auerbach (curator for FA)
Total number of public variants reported 56
Unique public DNA variants reported 13
Individuals with public variants 28
Hidden variants 0
Notes Reference sequence NG_007409.2 is identical to LRG_300
Variants associated with Fanconi anemia
Date created January 08, 2007
Date last updated October 07, 2014
Version BRIP1:141007

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
Homepage URL http://www.LOVD.nl/BRIP1
External URL Orphanet
Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 20473
Entrez Gene 83990
PubMed articles BRIP1
OMIM - Gene 605882
OMIM - Diseases FANCJ (Fanconi anemia, complementation group J (FANCJ))
cancer, breast, familial
HGMD BRIP1
GeneCards BRIP1
GeneTests BRIP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003496 17 BRCA1 interacting protein C-terminal helicase 1 NM_032043.2 NP_114432.2 56


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2007-2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.