BRIP1 BRCA1 interacting DNA helicase 1
Gene ID: 83990, updated on 3-Nov-2024Gene type: protein coding
Also known as: OF; BACH1; FANCJ
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- Go to complete Gene record for BRIP1
- Go to Variation Viewer for BRIP1 variants
Summary
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]
Associated conditions
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| Description | Tests |
|---|---|
| Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | See labs |
| Fanconi anemia complementation group J | See labs |
| Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available | |
| Mutations in BRIP1 confer high risk of ovarian cancer. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-02-15) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-02-15) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 17q23.2
- Sequence:
- Chromosome: 17; NC_000017.11 (61679139..61863528, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BRIP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BRIP1 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Fanconi Anaemia Mutation Database (FANCJ - BRIP1)
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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