PALB2 c.1229T>C ;(p.V410A)

Variant ID: 16-23646638-A-G

NM_024675.3(PALB2):c.1229T>C;(p.V410A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PALB2: V410A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



PALB2 chromatin recruitment restores homologous recombination in BRCA1-deficient cells depleted of 53BP1.

Nature Communications
Belotserkovskaya, Rimma R; Raga Gil, Elisenda E; Lawrence, Nicola N; Butler, Richard R; Clifford, Gillian G; Wilson, Marcus D MD; Jackson, Stephen P SP
Publication Date: 2020-02-10

Variant appearance in text: PALB2: V410A
PubMed Link: 32041954
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14563.pdf
View BVdb publication page



Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
BalmaƱa, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM
Publication Date: 2016-12

Variant appearance in text: PALB2: Val410Ala
PubMed Link: 27621404
Variant Present in the following documents:
  • JCO.2016.68.4316.pdf
View BVdb publication page