Varaico: Literature-Extracted Genetic Variants

Gene:FEN1
Variant:p.D181A
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FEN1

NM_004111.6:p.D181A

Associated Papers

Flap endonuclease 1 repairs DNA-protein cross-links via ADP-ribosylation-dependent mechanisms.

Sun Y et al.

Science Advances, 2025

PARP1-driven repair of topoisomerase IIIα DNA-protein crosslinks by FEN1.

Saha LK et al.

Cell Reports, 2024

Small-Molecule Inhibitors Targeting FEN1 for Cancer Therapy.

Yang F et al.

Biomolecules, 2022

Modeling DNA trapping of anticancer therapeutic targets using missense mutations identifies dominant synthetic lethal interactions.

Hamza A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Structure of the processive human Pol δ holoenzyme.

Lancey C et al.

Nature Communications, 2020

Structural basis of 5' flap recognition and protein-protein interactions of human flap endonuclease 1.

Xu H et al.

Nucleic Acids Research, 2018

Phosphate steering by Flap Endonuclease 1 promotes 5'-flap specificity and incision to prevent genome instability.

Tsutakawa SE et al.

Nature Communications, 2017

28653660 (PubMed )
Supplement: ncomms15855-s6.pdf

Flap Endonuclease 1 Limits Telomere Fragility on the Leading Strand.

Teasley DC et al.

The Journal of Biological Chemistry, 2015

Double strand binding-single strand incision mechanism for human flap endonuclease: implications for the superfamily.

Tsutakawa SE et al.

Mechanisms of Ageing and Development, 2012

Human flap endonuclease structures, DNA double-base flipping, and a unified understanding of the FEN1 superfamily.

Tsutakawa SE et al.

Cell, 2011

Coupled 5' nucleotide recognition and processivity in Xrn1-mediated mRNA decay.

Jinek M et al.

Molecular Cell, 2011

Repeat instability as the basis for human diseases and as a potential target for therapy.

López Castel A et al.

Nature Reviews. Molecular Cell Biology, 2010

20177394 (PubMed )
Supplement: 41580_2010_BFnrm2854_MOESM2_ESM.pdf

Coordination between polymerase beta and FEN1 can modulate CAG repeat expansion.

Liu Y et al.

The Journal of Biological Chemistry, 2009

Flap endonuclease 1 contributes to telomere stability.

Saharia A et al.

Current Biology : Cb, 2008

Interaction interface of human flap endonuclease-1 with its DNA substrates.

Qiu J et al.

The Journal of Biological Chemistry, 2004

Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability.

Spiro C et al.

Molecular and Cellular Biology, 2003

Arginine residues 47 and 70 of human flap endonuclease-1 are involved in DNA substrate interactions and cleavage site determination.

Qiu J et al.

The Journal of Biological Chemistry, 2002

Defective flap endonuclease 1 activity in mammalian cells is associated with impaired DNA repair and prolonged S phase delay.

Shibata Y et al.

The Journal of Biological Chemistry, 2002

Human flap endonuclease-1: conformational change upon binding to the flap DNA substrate and location of the Mg2+ binding site.

Kim CY et al.

Biochemistry, 2001

Functional analysis of human FEN1 in Saccharomyces cerevisiae and its role in genome stability.

Greene AL et al.

Human Molecular Genetics, 1999

A novel role in DNA metabolism for the binding of Fen1/Rad27 to PCNA and implications for genetic risk.

Gary R et al.

Molecular and Cellular Biology, 1999

Structural changes measured by X-ray scattering from human flap endonuclease-1 complexed with Mg2+ and flap DNA substrate.

Kim CY et al.

The Journal of Biological Chemistry, 1999

Partial functional deficiency of E160D flap endonuclease-1 mutant in vitro and in vivo is due to defective cleavage of DNA substrates.

Frank G et al.

The Journal of Biological Chemistry, 1998

Characterization of a putative helix-loop-helix motif in nucleotide excision repair endonuclease, XPG.

Park MS et al.

The Journal of Biological Chemistry, 1997

Functional analysis of point mutations in human flap endonuclease-1 active site.

Shen B et al.

Nucleic Acids Research, 1997

Essential amino acids for substrate binding and catalysis of human flap endonuclease 1.

Shen B et al.

The Journal of Biological Chemistry, 1996

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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."