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
RS2535986673 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535986824 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535986922 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535996014 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536012106 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536029962 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536031186 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536031400 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536035606 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536041791 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536042016 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536042069 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536043103 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536043255 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536043465 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049305 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049813 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049949 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536056612 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536056686 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536056771 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536061924 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536081390 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536081428 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS369158322 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS369741345 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS371538747 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS372382340 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS373806031 Health Risk Pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS587776621 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS606231162 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS746445847 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS748860208 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS749616545 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS751112452 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS751969803 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS751986285 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS752312589 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS752830087 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS757968518 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS758232075 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS759972548 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS763089663 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS765756226 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS770947623 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS773664315 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS773822420 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS774765029 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS776785728 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS776963381 Health Risk Pathogenic Werner syndrome, Familial cancer of breast, Werner syndrome
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