Varaico: Literature-Extracted Genetic Variants

Gene:FANCD2
Variant:p.K561R
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FANCD2

NM_001018115.3:p.K561R

Associated Papers

Dynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formation.

Hotani T et al.

Journal of Cell Science, 2025

The USP1 Inhibitor KSQ-4279 Overcomes PARP Inhibitor Resistance in Homologous Recombination-Deficient Tumors.

Cadzow L et al.

Cancer Research, 2024

The Fanconi anemia core complex promotes CtIP-dependent end resection to drive homologous recombination at DNA double-strand breaks.

van de Kooij B et al.

Nature Communications, 2024

Deciphering the role of post-translational modifications in fanconi anemia proteins and their influence on tumorigenesis.

Ma R et al.

Cancer Gene Therapy, 2024

The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export.

Olazabal-Herrero A et al.

Cell Reports, 2024

FBXL12 degrades FANCD2 to regulate replication recovery and promote cancer cell survival under conditions of replication stress.

Brunner A et al.

Molecular Cell, 2023

Fanconi anemia DNA crosslink repair factors protect against LINE-1 retrotransposition during mouse development.

Bona N et al.

Nature Structural & Molecular Biology, 2023

FANCD2 and RAD51 recombinase directly inhibit DNA2 nuclease at stalled replication forks and FANCD2 acts as a novel RAD51 mediator in strand exchange to promote genome stability.

Liu W et al.

Nucleic Acids Research, 2023

MRE11-dependent instability in mitochondrial DNA fork protection activates a cGAS immune signaling pathway.

Luzwick JW et al.

Science Advances, 2021

Cyclin-Dependent Kinase-Mediated Phosphorylation of FANCD2 Promotes Mitotic Fidelity.

Cantres-Velez JA et al.

Molecular and Cellular Biology, 2021

TFG-maintaining stability of overlooked FANCD2 confers early DNA-damage response.

Ma C et al.

Aging, 2020

Emerging functions of Fanconi anemia genes in replication fork protection pathways.

Kolinjivadi AM et al.

Human Molecular Genetics, 2020

A distinct role for recombination repair factors in an early cellular response to transcription-replication conflicts.

Shao X et al.

Nucleic Acids Research, 2020

Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays.

Tan W et al.

Elife, 2020

Nuclear receptors regulate alternative lengthening of telomeres through a novel noncanonical FANCD2 pathway.

Xu M et al.

Science Advances, 2019

FANCD2 Binding to H4K20me2 via a Methyl-Binding Domain Is Essential for Efficient DNA Cross-Link Repair.

Paquin KL et al.

Molecular and Cellular Biology, 2019

Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination.

Liang Z et al.

Cell Reports, 2019

A new look at molecular biology of breast cancer.

Ma C et al.

Cancer Biology & Therapy, 2019

Translesion polymerase kappa-dependent DNA synthesis underlies replication fork recovery.

Tonzi P et al.

Elife, 2018

Identification of UHRF2 as a novel DNA interstrand crosslink sensor protein.

Motnenko A et al.

Plos Genetics, 2018

Specificity for deubiquitination of monoubiquitinated FANCD2 is driven by the N-terminus of USP1.

Arkinson C et al.

Life Science Alliance, 2018

Constitutive role of the Fanconi anemia D2 gene in the replication stress response.

Tian Y et al.

The Journal of Biological Chemistry, 2017

Activation of the FA pathway mediated by phosphorylation and ubiquitination.

Ishiai M et al.

Mutation Research, 2017

Involvement of FANCD2 in Energy Metabolism via ATP5α.

Jayabal P et al.

Scientific Reports, 2017

Ubiquitination-Linked Phosphorylation of the FANCI S/TQ Cluster Contributes to Activation of the Fanconi Anemia I/D2 Complex.

Cheung RS et al.

Cell Reports, 2017

Coordination of the recruitment of the FANCD2 and PALB2 Fanconi anemia proteins by an ubiquitin signaling network.

Bick G et al.

Chromosoma, 2017

FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5'-DNA end.

Sato K et al.

Nucleic Acids Research, 2016

FANCD2 Facilitates Replication through Common Fragile Sites.

Madireddy A et al.

Molecular Cell, 2016

Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications.

Alavattam KG et al.

Cell Reports, 2016

FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway.

Root H et al.

Human Molecular Genetics, 2016

Cellular response to DNA interstrand crosslinks: the Fanconi anemia pathway.

Lopez-Martinez D et al.

Cellular and Molecular Life Sciences : Cmls, 2016

The FANCD2-FANCI complex is recruited to DNA interstrand crosslinks before monoubiquitination of FANCD2.

Liang CC et al.

Nature Communications, 2016

FANCD2 Maintains Fork Stability in BRCA1/2-Deficient Tumors and Promotes Alternative End-Joining DNA Repair.

Kais Z et al.

Cell Reports, 2016

Interplay between Fanconi anemia and homologous recombination pathways in genome integrity.

Michl J et al.

The Embo Journal, 2016

Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction.

Thongthip S et al.

Genes & Development, 2016

26980189 (PubMed )
Supplement: supp_30.6.645_SuppMaterial.pdf

Impaired TIP60-mediated H4K16 acetylation accounts for the aberrant chromatin accumulation of 53BP1 and RAP80 in Fanconi anemia pathway-deficient cells.

Renaud E et al.

Nucleic Acids Research, 2016

A novel role for non-ubiquitinated FANCD2 in response to hydroxyurea-induced DNA damage.

Chen X et al.

Oncogene, 2016

Chromosomal Integrity after UV Irradiation Requires FANCD2-Mediated Repair of Double Strand Breaks.

Federico MB et al.

Plos Genetics, 2016

Update of the human and mouse Fanconi anemia genes.

Dong H et al.

Human Genomics, 2015

FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2.

Castella M et al.

Plos Genetics, 2015

FANCD2 and REV1 cooperate in the protection of nascent DNA strands in response to replication stress.

Yang Y et al.

Nucleic Acids Research, 2015

ATR-mediated phosphorylation of FANCI regulates dormant origin firing in response to replication stress.

Chen YH et al.

Molecular Cell, 2015

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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."