Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S955R
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PALB2

NM_024675.4:p.S955R

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_CC_and_WD40

Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Boonen RACM et al.

Frontiers in Molecular Biosciences, 2020

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Rodrigue A et al.

Nucleic Acids Research, 2019

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.

Blanco A et al.

Breast Cancer Research and Treatment, 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."