Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.K523R
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FANCI

NM_001113378.2:p.K523R

Associated Papers

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

Ma R et al.

Cancer Gene Therapy, 2024

Mechanism, specificity, and function of FANCD2-FANCI ubiquitination and deubiquitination.

Lemonidis K et al.

The Febs Journal, 2022

FANCI functions as a repair/apoptosis switch in response to DNA crosslinks.

Shah RB et al.

Developmental Cell, 2021

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

Tan W et al.

Elife, 2020

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

Arkinson C et al.

Life Science Alliance, 2018

Activation of the FA pathway mediated by phosphorylation and ubiquitination.

Ishiai M et al.

Mutation Research, 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

FANCD2 Facilitates Replication through Common Fragile Sites.

Madireddy A et al.

Molecular Cell, 2016

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

Michl J et al.

The Embo Journal, 2016

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

Castella M et al.

Plos Genetics, 2015

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

Chen YH et al.

Molecular Cell, 2015

Regulation of FANCD2 and FANCI monoubiquitination by their interaction and by DNA.

Longerich S et al.

Nucleic Acids Research, 2014

Regulation of the Fanconi anemia pathway by a SUMO-like delivery network.

Yang K et al.

Genes & Development, 2011

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.

Colnaghi L et al.

Blood, 2011

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

Liu T et al.

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

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.

Ishiai M et al.

Nature Structural & Molecular Biology, 2008

FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

Sims AE et al.

Nature Structural & Molecular Biology, 2007

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.

Smogorzewska A et al.

Cell, 2007

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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."