| Entrez Gene ID | 254065 |
|---|---|
| Official Gene Symbol | BRWD3 (GeneCards) |
| Full name | bromodomain and WD repeat domain containing 3 |
| Location | Xq21.1 |
| Other ids | Vega : OTTHUMG00000021908 MIM : 300553 HGNC : HGNC:17342 Ensembl : ENSG00000165288 |
| Other names | BRODL, MRX93 |
| Summary | The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22310 | 254065 | BRWD3 | X | 80155435 | 80155435 | Cockayne syndrome | HiSeq X Ten |
| 28769 | 254065 | BRWD3 | X | 80217380 | 80217380 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29028 | 254065 | BRWD3 | X | 80066818 | 80066818 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |