Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.Y171F
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APEX1

NM_001641.4:p.Y171F

Associated Papers

Pre-steady-state kinetic and mutational insights into mechanisms of endo- and exonuclease DNA processing by mutant forms of human AP endonuclease.

Bakman AS et al.

Biochimica Et Biophysica Acta. General Subjects, 2022

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

Chohan M et al.

Journal of Molecular Biology, 2015

Conserved structural chemistry for incision activity in structurally non-homologous apurinic/apyrimidinic endonuclease APE1 and endonuclease IV DNA repair enzymes.

Tsutakawa SE et al.

The Journal of Biological Chemistry, 2013

Novel role of tyrosine in catalysis by human AP endonuclease 1.

Mundle ST et al.

Dna Repair, 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

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."