SMARCA4 c.1255G>C ;(p.E419Q)

Variant ID: 19-11101835-G-C

NM_003072.3(SMARCA4):c.1255G>C;(p.E419Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Development of an optimal protocol for molecular profiling of tumor cells in pleural effusions at single-cell level.

Cancer Science
Nakamura, Ikuko Takeda IT; Ikegami, Masachika M; Hasegawa, Nobuhiko N; Hayashi, Takuo T; Ueno, Toshihide T; Kawazu, Masahito M; Yagishita, Shigehiro S; Goto, Yasushi Y; Shinno, Yuki Y; Kojima, Yuki Y; Takamochi, Kazuya K; Takahashi, Fumiyuki F; Takahashi, Kazuhisa K; Mano, Hiroyuki H; Kohsaka, Shinji S
Publication Date: 2021-05

Variant appearance in text: SMARCA4: Glu419Gln
PubMed Link: 33484069
Variant Present in the following documents:
  • CAS-112-2006.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: E419Q
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page