Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R1117K
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PALB2

NM_024675.4:p.R1117K

Associated Papers

Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.

Gomes TT et al.

The Journal of Biological Chemistry, 2025

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2025

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer.

Butz H et al.

Cancers, 2023

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM2_ESM.xlsx › Sheet1

Mutation analysis of PALB2 gene in French breast cancer families.

Damiola F et al.

Breast Cancer Research and Treatment, 2015

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