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
RS2535901752 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535902178 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535909385 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535911171 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535911241 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535919253 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535923881 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535924290 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535924832 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS2535926992 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535927168 Health Risk Likely pathogenic
RS2535930302 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535930484 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS2535931386 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535931905 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535950915 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535951148 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535968881 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535969504 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535978167 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535986164 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535986999 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535995120 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536012100 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536012185 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536033601 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536035612 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536043142 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536049676 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536049982 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536080997 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS281865159 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS369277330 Health Risk Likely pathogenic Werner syndrome, Inborn genetic diseases, Werner syndrome
RS748089844 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS751015040 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS752202315 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS752465293 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS754056304 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS754208761 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS755891046 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS756880457 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS759685032 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS762855622 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS771433734 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS775196937 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS777096501 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS780068269 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS780988648 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS866300270 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS113993961 Health Risk Pathogenic Werner syndrome, Werner syndrome
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