Varaico: Literature-Extracted Genetic Variants

Gene:RFWD3
Variant:p.I639K
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RFWD3

NM_018124.4:p.I639K

Associated Papers

SLFN11 counteracts the RFWD3-PRIMPOL DNA damage tolerance axis to restrain gapped DNA synthesis in response to replication stress.

Coleman KE et al.

Nature Communications, 2025

41372167 (PubMed )
Supplement: 41467_2025_66068_MOESM3_ESM.pdf

Elucidating the genetic mechanisms governing cytosine base editing outcomes through CRISPRi screens.

Gu S et al.

Nature Communications, 2025

E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.

Chauhan AS et al.

The Biochemical Journal, 2024

SMARCAL1 ubiquitylation controls its association with RPA-coated ssDNA and promotes replication fork stability.

Yates M et al.

Plos Biology, 2024

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.

Kocagil S et al.

Molecular Syndromology, 2023

Implications of ubiquitination and the maintenance of replication fork stability in cancer therapy.

Xia D et al.

Bioscience Reports, 2023

RFWD3 promotes ZRANB3 recruitment to regulate the remodeling of stalled replication forks.

Moore CE et al.

The Journal of Cell Biology, 2023

The ubiquitin ligase RFWD3 is required for translesion DNA synthesis.

Gallina I et al.

Molecular Cell, 2021

Proteolytic control of genome integrity at the replication fork.

Rageul J et al.

Dna Repair, 2019

PCNA-mediated stabilization of E3 ligase RFWD3 at the replication fork is essential for DNA replication.

Lin YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Ubiquitylation at the Fork: Making and Breaking Chains to Complete DNA Replication.

Yates M et al.

International Journal of Molecular Sciences, 2018

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.

Knies K et al.

The Journal of Clinical Investigation, 2017

RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health.

Feeney L et al.

Molecular Cell, 2017

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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."