Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.R834C
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WRN

NM_000553.6:p.R834C

Associated Papers

Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.

Poot M

Cytogenetic and Genome Research, 2025

Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study.

Lin YY et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Werner syndrome exonuclease promotes gut regeneration and causes age-associated gut hyperplasia in Drosophila.

Wu K et al.

Plos Biology, 2025

40261911 (PubMed )
Supplement: pbio.3003121.s025.docx

Response to Replication Stress and Maintenance of Genome Stability by WRN, the Werner Syndrome Protein.

Orren DK et al.

International Journal of Molecular Sciences, 2024

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s002.xlsx › VUS_Reclassified

Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.

Capitanio JF et al.

Advances in Experimental Medicine and Biology, 2023

Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.

Gómez-Flores-Ramos L et al.

Cancers, 2022

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.

Castillo-Tandazo W et al.

Plos Genetics, 2019

Werner Syndrome Helicase Is Required for the Survival of Cancer Cells with Microsatellite Instability.

Kategaya L et al.

Iscience, 2019

Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.

Kamath-Loeb AS et al.

Scientific Reports, 2017

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote K et al.

Human Mutation, 2017

Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.

Zins K et al.

International Journal of Molecular Sciences, 2015

Catalytic activities of Werner protein are affected by adduction with 4-hydroxy-2-nonenal.

Czerwińska J et al.

Nucleic Acids Research, 2014

Functional deficit associated with a missense Werner syndrome mutation.

Tadokoro T et al.

Dna Repair, 2013

Aging is accompanied by a progressive decrease of expression of the WRN gene in human blood mononuclear cells.

Polosak J et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2011

Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

Monnat RJ

Seminars in Cancer Biology, 2010

Delineation of WRN helicase function with EXO1 in the replicational stress response.

Aggarwal M et al.

Dna Repair, 2010

Genetic studies of human DNA repair proteins using yeast as a model system.

Aggarwal M et al.

Journal of Visualized Experiments : Jove, 2010

Werner syndrome gene variants in human sarcomas.

Hsu JJ et al.

Molecular Carcinogenesis, 2010

The Werner's syndrome 4330T>C (Cys1367Arg) gene variant does not affect the in vitro cytotoxicity of topoisomerase inhibitors and platinum compounds.

Innocenti F et al.

Cancer Chemotherapy and Pharmacology, 2009

WRN helicase defective in the premature aging disorder Werner syndrome genetically interacts with topoisomerase 3 and restores the top3 slow growth phenotype of sgs1 top3.

Aggarwal M et al.

Aging, 2009

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.

Muftuoglu M et al.

Human Genetics, 2008

From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.

Cox LS et al.

Cellular and Molecular Life Sciences : Cmls, 2007

The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling.

Ren H et al.

Nucleic Acids Research, 2007

Werner syndrome: molecular insights into the relationships between defective DNA metabolism, genomic instability, cancer and aging.

Orren DK

Frontiers in Bioscience : a Journal and Virtual Library, 2006

Werner syndrome and mutations of the WRN and LMNA genes in France.

Uhrhammer NA et al.

Human Mutation, 2006

WRN exonuclease structure and molecular mechanism imply an editing role in DNA end processing.

Perry JJ et al.

Nature Structural & Molecular Biology, 2006

The enzymatic activities of the Werner syndrome protein are disabled by the amino acid polymorphism R834C.

Kamath-Loeb AS et al.

The Journal of Biological Chemistry, 2004

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