Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.G241R
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APEX1

NM_001641.4:p.G241R

Associated Papers

Modulation of the Apurinic/Apyrimidinic Endonuclease Activity of Human APE1 and of Its Natural Polymorphic Variants by Base Excision Repair Proteins.

Kladova OA et al.

International Journal of Molecular Sciences, 2020

Chromatin and other obstacles to base excision repair: potential roles in carcinogenesis.

Caffrey PJ et al.

Mutagenesis, 2020

Emerging Evidence Highlighting the Importance of Redox Dysregulation in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS).

Jagaraj CJ et al.

Frontiers in Cellular Neuroscience, 2020

The impact of single-nucleotide polymorphisms of human apurinic/apyrimidinic endonuclease 1 on specific DNA binding and catalysis.

Alekseeva IV et al.

Biochimie, 2019

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › SNV_and_indels

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

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

Illuzzi JL et al.

Environmental and Molecular Mutagenesis, 2017

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

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

Chohan M et al.

Journal of Molecular Biology, 2015

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

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

Reprint of: gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.

Simonelli V et al.

Mutation Research, 2012

Gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.

Simonelli V et al.

Mutation Research, 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

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

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

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

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

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function.

Xi T et al.

Genomics, 2004

Functional characterization of Ape1 variants identified in the human population.

Hadi MZ et al.

Nucleic Acids Research, 2000

Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans.

Shen MR et al.

Cancer Research, 1998

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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."