Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.V114I
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WRN

NM_000553.6:p.V114I

Associated Papers

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

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases.

Lautrup S et al.

Biogerontology, 2019

Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Liu F et al.

Therapeutic Advances in Medical Oncology, 2019

31205508 (PubMed )
Supplement: Supplemental_Table_3.xlsx › Sheet1

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Buckingham L et al.

Hereditary Cancer in Clinical Practice, 2019

Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy.

Limviphuvadh V et al.

Bmc Cancer, 2018

29751792 (PubMed )
Supplement: 12885_2018_4471_MOESM1_ESM.zip › TableS2R2.xlsx › Table_S2

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4

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

Implementation of personalized medicine for fracture risk assessment in osteoporosis.

Mori S et al.

Geriatrics & Gerontology International, 2016

A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.

Zhou H et al.

Journal of Bone and Mineral Metabolism, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

Chen Y et al.

American Journal of Hematology, 2013

Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: a pathway-based analysis.

Dong J et al.

Molecular Carcinogenesis, 2012

Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population.

Salagovič J et al.

Medical Oncology (northwood, London, England), 2012

Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM.

Frank B et al.

Carcinogenesis, 2010

Werner syndrome gene variants in human sarcomas.

Hsu JJ et al.

Molecular Carcinogenesis, 2010

Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. Radiologic technologists.

Bhatti P et al.

International Journal of Cancer, 2008

Polymorphisms in DNA repair genes and risk of non-Hodgkin's lymphoma in New South Wales, Australia.

Shen M et al.

Haematologica, 2007

Genetic susceptibility to lymphoma.

Skibola CF et al.

Haematologica, 2007

Polymorphisms in genes involved in DNA double-strand break repair pathway and susceptibility to benzene-induced hematotoxicity.

Shen M et al.

Carcinogenesis, 2006

Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut.

Shen M et al.

Human Genetics, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."