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
RS121908446 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS121908447 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS121908448 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1244318419 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1248051594 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1268227280 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1288018118 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1303126572 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1304645785 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1339616347 Health Risk Pathogenic 6 conditions, Werner syndrome, Werner syndrome
RS1361270203 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1374026497 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1383589957 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1389340786 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1396973081 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1428459485 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS143916053 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1441659798 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1454512341 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1455560468 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1461411104 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554519254 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554526707 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554527775 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554528411 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1554530901 Health Risk Pathogenic
RS1563338837 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563339055 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563357741 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563376526 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563376595 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563382597 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585411632 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585427710 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585455586 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585478331 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585483312 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585502089 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585521874 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1585536813 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801328287 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801519418 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801522729 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801530173 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801678807 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801846606 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801847909 Health Risk Pathogenic
RS1802623856 Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1802626671 Health Risk Pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS1802630943 Health Risk Pathogenic Werner syndrome, Werner syndrome
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