ABRAXAS1 abraxas 1, BRCA1 A complex subunit
Gene ID: 84142, updated on 17-Aug-2024Gene type: protein coding
Also known as: ABRA1; CCDC98; FAM175A
- See all available tests in GTR for this gene
- Go to complete Gene record for ABRAXAS1
- Go to Variation Viewer for ABRAXAS1 variants
Summary
This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-07-18) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 4q21.23
- Sequence:
- Chromosome: 4; NC_000004.12 (83459517..83485100, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABRAXAS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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