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
RS370253199 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS370713742 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer, Werner syndrome
RS371602600 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer, Werner syndrome
RS374140086 Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder, Werner syndrome
RS374142752 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS374154973 Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder, Werner syndrome
RS374684032 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS374688634 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS374867947 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS377226126 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS377535272 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS4987238 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS541455377 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer, Inborn genetic diseases
RS545431480 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS556958354 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Wiskott-Aldrich syndrome, WRN-related disorder
RS558054655 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS562250010 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS566693857 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS574787451 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS61751045 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS747317429 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Hereditary cancer, Inborn genetic diseases
RS748618811 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome, Werner syndrome
RS749379604 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer, Werner syndrome
RS751988233 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS752542644 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS755729832 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS762685242 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS764589321 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS767115441 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS769959338 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome, Werner syndrome
RS772082980 Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder, Werner syndrome
RS772319506 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Colorectal cancer, Werner syndrome
RS773803207 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer, Werner syndrome
RS776463866 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS778162176 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases, Werner syndrome
RS779902531 Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder, Werner syndrome
RS78488552 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Papillary renal cell carcinoma type 1, Werner syndrome
RS794727200 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS886062888 Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder, Werner syndrome
RS886062892 Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1047229701 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS1163988347 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS1170732591 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1175230246 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1177166077 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1241888415 Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1258953831 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS1281075870 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS1300106191 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
RS1381370500 Health Risk Likely pathogenic Werner syndrome, Werner syndrome, Werner syndrome
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