Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R414Q
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PALB2

NM_024675.4:p.R414Q

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_MOESM5_ESM.xlsx › Suppl._Data_3

Germline genomic profiling of patients with early-onset colorectal cancer.

Mauri G et al.

Esmo Gastrointestinal Oncology, 2025

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Hellebrand H et al.

Human Mutation, 2011

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