PALB2 c.1739A>G ;(p.Y580C)

Variant ID: 16-23641736-T-C

NM_024675.3(PALB2):c.1739A>G;(p.Y580C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: PALB2: 1739A>G; Y580C
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients.

Frontiers In Immunology
Shabrish, Snehal S; Kelkar, Madhura M; Chavan, Niranjan N; Desai, Mukesh M; Bargir, Umair U; Gupta, Maya M; Mehta, Priti P; Chichra, Akanksha A; S, Chandrakala C; Taur, Prasad P; Saxena, Vinay V; Vundinti, Babu Rao BR; Madkaikar, Manisha M
Publication Date: 2019

Variant appearance in text: FANCN: 1739A>G
PubMed Link: 30949167
Variant Present in the following documents:
  • Main text
  • fimmu-10-00490.pdf
View BVdb publication page