Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.K654R
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DNA2

NM_001080449.3:p.K654R

Associated Papers

A DNA2 mutation in the ATP-binding motif identified in a diagnostically unresolved individual.

Saito K et al.

Frontiers in Molecular Biosciences, 2025

Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.

Ceppi I et al.

Nature, 2024

PLK1 regulates CtIP and DNA2 interplay in long-range DNA end resection.

Ceppi I et al.

Genes & Development, 2023

The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.

Soniat MM et al.

The Journal of Biological Chemistry, 2023

The nuclease activity of DNA2 promotes exonuclease 1-independent mismatch repair.

Kadyrova LY et al.

The Journal of Biological Chemistry, 2022

The iron-sulphur cluster in human DNA2 is required for all biochemical activities of DNA2.

Mariotti L et al.

Communications Biology, 2020

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž et al.

Human Mutation, 2019

31045292 (PubMed )
Supplement: HUMU-40-1063-s001.docx

Human DNA2 possesses a cryptic DNA unwinding activity that functionally integrates with BLM or WRN helicases.

Pinto C et al.

Elife, 2016

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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."