PALB2 c.3418T>C ;(p.W1140R)

Variant ID: 16-23614923-A-G

NM_024675.3(PALB2):c.3418T>C;(p.W1140R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Frontiers In Oncology
Wu, Shijie S; Zhou, Jiaojiao J; Zhang, Kun K; Chen, Huihui H; Luo, Meng M; Lu, Yuexin Y; Sun, Yuting Y; Chen, Yiding Y
Publication Date: 2020

Variant appearance in text: PALB2: 3418T>C
PubMed Link: 32185139
Variant Present in the following documents:
  • Main text
  • fonc-10-00301.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: 3418T>C
PubMed Link: 31586400
Variant Present in the following documents:
  • Main text
  • gkz780.pdf
View BVdb publication page