Varaico: Literature-Extracted Genetic Variants

Gene:RECQL5
Variant:p.E584D
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RECQL5

NM_004259.7:p.E584D

Associated Papers

Genome-scale mapping of DNA damage suppressors through phenotypic CRISPR-Cas9 screens.

Zhao Y et al.

Molecular Cell, 2023

RECQ5 Helicase Cooperates with MUS81 Endonuclease in Processing Stalled Replication Forks at Common Fragile Sites during Mitosis.

Di Marco S et al.

Molecular Cell, 2017

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Fu W et al.

Human Mutation, 2017

The RecQ helicase RECQL5 participates in psoralen-induced interstrand cross-link repair.

Ramamoorthy M et al.

Carcinogenesis, 2013

A variant of the breast cancer type 2 susceptibility protein (BRC) repeat is essential for the RECQL5 helicase to interact with RAD51 recombinase for genome stabilization.

Islam MN et al.

The Journal of Biological Chemistry, 2012

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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."