Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.N342I
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PALB2

NM_024675.4:p.N342I

Associated Papers

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Functional characterization of 84 PALB2 variants of uncertain significance.

Wiltshire T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY et al.

Plos One, 2016

27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2

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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