WRN Chromosome 8

WRN RecQ like helicase
455 variants 455 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Exonucleases|RecQ like helicases"
Locus Type
gene with protein product
Location
8p12
Ensembl
ENSG00000165392
Associated Conditions (19)
Werner syndrome
Inborn genetic diseases
WRN-related disorder
Wiskott-Aldrich syndrome
Ovarian cancer
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Ovarian serous cystadenocarcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Cervical cancer
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Familial cancer of breast
Hereditary cancer
Papillary renal cell carcinoma type 1
Progressive pulmonary failure
6 conditions
Medulloblastoma
Key Variants
All Variants (455)
RSID Category Clinical Significance Conditions
RS1802645000 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1802694719 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1802745073 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1802887261 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1803078438 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1803426742 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812358625 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812391312 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812611533 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812613241 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812737120 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812741645 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1813089918 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1813283817 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1813725603 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1814197201 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130000774 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130032250 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130032264 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130036699 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130037261 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130056280 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130117999 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118163 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118800 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130118890 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130119420 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130120515 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130121219 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130121425 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130121624 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130133359 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130140311 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130155211 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130155645 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130155924 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130164025 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130171351 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130178691 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130229354 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130229956 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130282820 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130283448 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130283793 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130284286 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130284409 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130306151 Health Risk Pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS2130322156 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130344386 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130344836 Health Risk Pathogenic Werner syndrome, Werner syndrome
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