PALB2 c.280G>A ;(p.E94K)

Variant ID: 16-23647587-C-T

NM_024675.3(PALB2):c.280G>A;(p.E94K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PALB2: 280G>A; E94K
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020

Variant appearance in text: PALB2: 280G>A; E94K
PubMed Link: 33195396
Variant Present in the following documents:
  • fmolb-07-00169.pdf
View BVdb publication page



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

Nucleic Acids Research
Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY
Publication Date: 2019-11-18

Variant appearance in text: PALB2: E94K
PubMed Link: 31586400
Variant Present in the following documents:
  • Main text
  • gkz780.pdf
View BVdb publication page