The 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 exon/intron table
Associated with diseases FANC, FANCJ, cancer, breast, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1176
Unique public DNA variants reported 771
Individuals with public variants 38884
Hidden variants 3
Download all this gene's data Download all data
Notes Reference sequence NG_007409.2 is identical to LRG_300
Variants associated with Fanconi anemia.We gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019).
Date created January 08, 2007
Date last updated September 17, 2021
Version BRIP1:210917

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_032043.2.
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 https://www.LOVD.nl/BRIP1
External URL 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
Orphanet 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 1176


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2007-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.