Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.I64V
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APEX1

NM_001641.4:p.I64V

Associated Papers

Integrative Computational Analysis of Common EXO5 Haplotypes: Impact on Protein Dynamics, Genome Stability, and Cancer Progression.

Mazza F et al.

Journal of Chemical Information and Modeling, 2025

40115981 (PubMed )
Supplement: ci5c00067_si_002.xlsx › scored_ALL_haplotypes_1MAF_cano

The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia.

Lee JM et al.

Children (basel, Switzerland), 2021

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

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_DNArep

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

Altered Secretory Activity of APE1/Ref-1 D148E Variants Identified in Human Patients With Bladder Cancer.

Lee YR et al.

International Neurourology Journal, 2016

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 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

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

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

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

Functional characterization of a promoter polymorphism in APE1/Ref-1 that contributes to reduced lung cancer susceptibility.

Lu J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

Micronucleus occurrence related to base excision repair gene polymorphisms in Chinese workers occupationally exposed to vinyl chloride monomer.

Wen-Bin M et al.

Journal of Occupational and Environmental Medicine, 2009

A polymorphism in the APE1 gene promoter is associated with lung cancer risk.

Lo YL et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan.

Nakayama R et al.

Cancer Science, 2008

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

Gossage L et al.

Molecular Diagnosis & Therapy, 2007

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

Zienolddiny S et al.

Carcinogenesis, 2006

Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk.

Sakiyama T et al.

International Journal of Cancer, 2005

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

Functional characterization of Ape1 variants identified in the human population.

Hadi MZ et al.

Nucleic Acids Research, 2000

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

Tudek B

Molecular Aspects of Medicine, 0

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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."