The BRIP1 gene homepage

General information
Gene symbol BRIP1
Gene name BRCA1 interacting protein C-terminal helicase 1
Chromosome 17
Chromosomal band q22.2
Imprinted -
Genomic reference NG_007409.2
Transcript reference NM_032043.2
Associated with diseases WD
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 180
Unique public DNA variants reported 127
Individuals with public variants 0
Hidden variants -
Notes The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
Also known as: OF; BACH1; FANCJ
Date created April 14, 2013

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.genomed.org/lovd3/genes/BRIP1
External URL Fanconi anemia database
BRIP1
HGNC 20473
Entrez Gene 83990
PubMed articles BRIP1
OMIM - Gene 605882
OMIM - Diseases WD (wilson disease)
HGMD BRIP1
GeneCards BRIP1
GeneTests BRIP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000031 17 BRCA1 interacting protein C-terminal helicase 1 NM_032043.2 - 180


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