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WRN (NM_000553) - WRN RecQ like helicase
Werner Syndrome Atp-Dependent Helicase
Legend
                Mutation impacts
                
  
    
    
  
              
                
                Sites
                
  
    
    
  
              
                  -    C-linked
 -    N-linked
 -    O-linked
 -    S-linked
 
-    SARS-CoV-2
 
Others
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              Mutations Visualisation
              
  
    
    
  
            
          
        Protein 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Publication Note:
  This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.  
Evidence data:
 Transcript exon combination :: SRR1803614.266899.1, AF091214.1 [ECO:0000332] 
- Strand
 - +
 - Chromosome
 - 8
 
- Protein
 - 1432 residues
 - All mutations
 - 867
 
- PTM sites
 - 58
 - CDS
 - 30,915,963 - 31,030,618
 - Transcription
 - 30,890,777 - 31,031,277