Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S59A
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PALB2

NM_024675.4:p.S59A

Associated Papers

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Boonen RACM et al.

Nature Communications, 2026

41554690 (PubMed )
Supplement: 41467_2025_67252_MOESM6_ESM.xlsx › SpliceAI_middle_region

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.

Zhang Y et al.

Human Mutation, 2021

The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.

Nepomuceno TC et al.

International Journal of Molecular Sciences, 2017

Coupling of Homologous Recombination and the Checkpoint by ATR.

Buisson R et al.

Molecular Cell, 2017

ATM/ATR-mediated phosphorylation of PALB2 promotes RAD51 function.

Ahlskog JK et al.

Embo Reports, 2016

ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response.

Guo Y et al.

The Journal of Biological Chemistry, 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."