Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.G306A
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APEX1

NM_001641.4:p.G306A

Associated Papers

Mitochondrial genome stability in human: understanding the role of DNA repair pathways.

Dahal S et al.

The Biochemical Journal, 2021

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

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

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

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."