Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.D308A
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APEX1

NM_001641.4:p.D308A

Associated Papers

The role of active-site amino acid residues in the cleavage of DNA and RNA substrates by human apurinic/apyrimidinic endonuclease APE1.

Alekseeva IV et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

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

Chohan M et al.

Journal of Molecular Biology, 2015

Functional variants of human APE1 rescue the DNA repair defects of the yeast AP endonuclease/3'-diesterase-deficient strain.

Wang Z et al.

Dna Repair, 2014

Genetic and biochemical characterization of human AP endonuclease 1 mutants deficient in nucleotide incision repair activity.

Gelin A et al.

Plos One, 2010

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

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

Shen MR et al.

Cancer Research, 1998

Structural comparison of AP endonucleases from the exonuclease III family reveals new amino acid residues in human AP endonuclease 1 that are involved in incision of damaged DNA.

Redrejo-Rodríguez M et al.

Biochimie, 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."