Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L1119P
Back to variants list

PALB2

NM_024675.4:p.L1119P

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

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

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Boonen RACM et al.

Nature Communications, 2019

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

Rodrigue A et al.

Nucleic Acids Research, 2019

31586400 (PubMed )
Supplement: gkz780_supplemental_files.zip › Table_S3._Summary_of_PARPi_sensitivity_assay_and_mammalian_two-hybrid_values_with_significance.xlsx › Feuil1

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Nguyen-Dumont T et al.

Breast Cancer Research and Treatment, 2015

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Catucci I et al.

Familial Cancer, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."