Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.Q51H
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APEX1

NM_001641.4:p.Q51H

Associated Papers

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Functions of the major abasic endonuclease (APE1) in cell viability and genotoxin resistance.

McNeill DR et al.

Mutagenesis, 2020

DNA Repair Molecular Beacon assay: a platform for real-time functional analysis of cellular DNA repair capacity.

Li J et al.

Oncotarget, 2018

Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Wang J et al.

Scientific Reports, 2017

28827732 (PubMed )
Supplement: 41598_2017_7737_MOESM1_ESM.pdf

Tumor-associated APE1 variant exhibits reduced complementation efficiency but does not promote cancer cell phenotypes.

Illuzzi JL et al.

Environmental and Molecular Mutagenesis, 2017

Intratumoral heterogeneity identified at the epigenetic, genetic and transcriptional level in glioblastoma.

Parker NR et al.

Scientific Reports, 2016

Reduced Nuclease Activity of Apurinic/Apyrimidinic Endonuclease (APE1) Variants on Nucleosomes: IDENTIFICATION OF ACCESS RESIDUES.

Hinz JM et al.

The Journal of Biological Chemistry, 2015

The association between the APE1 Asp148Glu polymorphism and prostate cancer susceptibility: a meta-analysis based on case-control studies.

Zhou X et al.

Molecular Genetics and Genomics : Mgg, 2015

Human apurinic/apyrimidinic endonuclease 1 (APE1) has 3' RNA phosphatase and 3' exoribonuclease activities.

Chohan M et al.

Journal of Molecular Biology, 2015

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

The association between the APE1 Asp148Glu polymorphism and breast cancer susceptibility: a meta-analysis based on case-control studies.

Zhao Z et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Human apurinic/apyrimidinic endonuclease 1.

Li M et al.

Antioxidants & Redox Signaling, 2014

Altered endoribonuclease activity of apurinic/apyrimidinic endonuclease 1 variants identified in the human population.

Kim WC et al.

Plos One, 2014

Contribution of environment and genetics to pancreatic cancer susceptibility.

Hocevar BA et al.

Plos One, 2014

Functional assessment of population and tumor-associated APE1 protein variants.

Illuzzi JL et al.

Plos One, 2013

Identification and quantification of DNA repair protein apurinic/apyrimidinic endonuclease 1 (APE1) in human cells by liquid chromatography/isotope-dilution tandem mass spectrometry.

Kirkali G et al.

Plos One, 2013

Base excision repair and cancer.

Wallace SS et al.

Cancer Letters, 2012

Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach.

Doss CG et al.

Plos One, 2012

DNA base excision repair gene polymorphisms modulate human cognitive performance and decline during normal life span.

Lillenes MS et al.

Mechanisms of Ageing and Development, 2011

Bioinformatic processing to identify single nucleotide polymorphism that potentially affect Ape1 function.

Yu ET et al.

Mutation Research, 2011

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

A genetic variant in the APE1/Ref-1 gene promoter -141T/G may modulate risk of glioblastoma in a Chinese Han population.

Zhou K et al.

Bmc Cancer, 2011

Polymorphisms in base excision repair genes as colorectal cancer risk factors and modifiers of the effect of diets high in red meat.

Brevik A et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Offer SM et al.

Plos One, 2010

Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.

Gemignani F et al.

Mutation Research, 2009

Single nucleotide polymorphisms in DNA repair genes and prostate cancer risk.

Park JY et al.

Methods in Molecular Biology (clifton, N.j.), 2009

Inherited predisposition of lung cancer: a hierarchical modeling approach to DNA repair and cell cycle control pathways.

Hung RJ et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Genetic variation in base excision repair genes and the prevalence of advanced colorectal adenoma.

Berndt SI et al.

Cancer Research, 2007

Cancer pharmacogenomics: role of DNA repair genetic polymorphisms in individualizing cancer therapy.

Gossage L et al.

Molecular Diagnosis & Therapy, 2007

DNA repair and cell cycle control genes and the risk of young-onset lung cancer.

Landi S et al.

Cancer Research, 2006

Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.

Zienolddiny S et al.

Carcinogenesis, 2006

Gene-environment interactions between the smoking habit and polymorphisms in the DNA repair genes, APE1 Asp148Glu and XRCC1 Arg399Gln, in Japanese lung cancer risk.

Ito H et al.

Carcinogenesis, 2004

Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

Sigurdson AJ et al.

Bmc Cancer, 2004

Polymorphisms in DNA repair and environmental interactions.

de Boer JG

Mutation Research, 2002

Functional characterization of Ape1 variants identified in the human population.

Hadi MZ et al.

Nucleic Acids Research, 2000

Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS).

Tomkins J et al.

Neuroreport, 2000

Sporadic colorectal cancer and individual susceptibility: a review of the association studies investigating the role of DNA repair genetic polymorphisms.

Naccarati A et al.

Mutation Research, 0

Base excision repair modulation as a risk factor for human cancers.

Tudek B

Molecular Aspects of Medicine, 0

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