SMARCA4 c.742A>G ;(p.N248D)

Variant ID: 19-11097251-A-G

NM_003072.3(SMARCA4):c.742A>G;(p.N248D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Homozygous deletion of the HLA-B gene as an acquired-resistance mechanism to nivolumab in a patient with lung adenocarcinoma: a case report.

Annals Of Translational Medicine
Zhang, He H; Dong, Weiwei W; Zhao, Huixia H; Zeng, Zhiyan Z; Zhang, Fengyun F; Hu, Yanyan Y; Li, Qiuwen Q; Chen, Jing J; Meng, Erhong E; Xiao, Wenhua W
Publication Date: 2021-10

Variant appearance in text: SMARCA4: 742A>G; N248D
PubMed Link: 34805368
Variant Present in the following documents:
  • Main text
  • atm-09-19-1506.pdf
View BVdb publication page



Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: N248D
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page