Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.D960A
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FAN1

NM_014967.5:p.D960A

Associated Papers

DNA extrusion size determines pathway choice during CAG repeat expansion.

Bhatia M et al.

Nucleic Acids Research, 2025

Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1.

Senoussi I et al.

Nature Communications, 2025

DNA extrusion size determines pathway choice during CAG repeat expansion.

Bhatia M et al.

Biorxiv : the Preprint Server for Biology, 2025

A FAN1 point mutation associated with accelerated Huntington's disease progression alters its PCNA-mediated assembly on DNA.

Aretz J et al.

Nature Communications, 2025

Structural and molecular basis of PCNA-activated FAN1 nuclease function in DNA repair.

Li F et al.

Nature Communications, 2025

40368897 (PubMed )
Supplement: 41467_2025_59323_MOESM6_ESM.pdf

Structural and molecular basis of FAN1 defects in promoting Huntington's disease.

Li F et al.

Biorxiv : the Preprint Server for Biology, 2024

FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism.

Phadte AS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and Cerebellum.

Mätlik K et al.

Biorxiv : the Preprint Server for Biology, 2023

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.

McAllister B et al.

Nature Neuroscience, 2022

FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.

Deshmukh AL et al.

Cell Reports, 2021

FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.

Zhao X et al.

Nucleic Acids Research, 2021

FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.

Goold R et al.

Cell Reports, 2021

FANCD2-Associated Nuclease 1 Partially Compensates for the Lack of Exonuclease 1 in Mismatch Repair.

Kratz K et al.

Molecular and Cellular Biology, 2021

FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.

Porro A et al.

Science Advances, 2021

FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.

Deshmukh AL et al.

Journal of Huntington's Disease, 2021

FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.

Goold R et al.

Human Molecular Genetics, 2019

Structural mechanism of DNA interstrand cross-link unhooking by the bacterial FAN1 nuclease.

Jin H et al.

The Journal of Biological Chemistry, 2018

FAN1 interaction with ubiquitylated PCNA alleviates replication stress and preserves genomic integrity independently of BRCA2.

Porro A et al.

Nature Communications, 2017

Human FAN1 promotes strand incision in 5'-flapped DNA complexed with RPA.

Takahashi D et al.

Journal of Biochemistry, 2015

Structural insights into 5' flap DNA unwinding and incision by the human FAN1 dimer.

Zhao Q et al.

Nature Communications, 2014

Crystal structure of a Fanconi anemia-associated nuclease homolog bound to 5' flap DNA: basis of interstrand cross-link repair by FAN1.

Gwon GH et al.

Genes & Development, 2014

FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.

Liu T et al.

Science (new York, N.y.), 2010

Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents.

Kratz K et al.

Cell, 2010

A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.

Smogorzewska A et al.

Molecular Cell, 2010

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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."