| Entrez Gene ID | 7486 |
|---|---|
| Official Gene Symbol | WRN (GeneCards) |
| Full name | Werner syndrome RecQ like helicase |
| Location | 8p12 |
| Other ids | Vega : OTTHUMG00000163894 MIM : 604611 HGNC : HGNC:12791 Ensembl : ENSG00000165392 |
| Other names | RECQ3, RECQL2, RECQL3 |
| Summary | This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11804 | 7486 | WRN | 8 | 31175968 | 31175968 | Asymptomatic | HiSeq X Ten |
| 11974 | 7486 | WRN | 8 | 31220643 | 31220643 | Asymptomatic | HiSeq X Ten |
| 12381 | 7486 | WRN | 8 | 31135864 | 31135864 | Asymptomatic | HiSeq X Ten |
| 12397 | 7486 | WRN | 8 | 31481300 | 31481300 | Asymptomatic | HiSeq X Ten |
| 12622 | 7486 | WRN | 8 | 31133052 | 31133052 | Cockayne syndrome | HiSeq X Ten |
| 12863 | 7486 | WRN | 8 | 31247641 | 31247641 | Xeroderma Pigmentosum | HiSeq X Ten |
| 23323 | 7486 | WRN | 8 | 31458462 | 31458462 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26675 | 7486 | WRN | 8 | 31398246 | 31398246 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |