Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S157A
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PALB2

NM_024675.4:p.S157A

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

Nepomuceno TC et al.

International Journal of Molecular Sciences, 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."