SMARCA4 c.3754G>T ;(p.E1252*)

Variant ID: 19-11144173-G-T

NM_003072.3(SMARCA4):c.3754G>T;(p.E1252*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E1252*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A comparative study of curated contents by knowledge-based curation system in cancer clinical sequencing.

Scientific Reports
Sakai, Kazuko K; Takeda, Masayuki M; Shimizu, Shigeki S; Takahama, Takayuki T; Yoshida, Takeshi T; Watanabe, Satomi S; Iwasa, Tsutomu T; Yonesaka, Kimio K; Suzuki, Shinichiro S; Hayashi, Hidetoshi H; Kawakami, Hisato H; Nonagase, Yoshikane Y; Tanaka, Kaoru K; Tsurutani, Junji J; Saigoh, Kazumasa K; Ito, Akihiko A; Mitsudomi, Tetsuya T; Nakagawa, Kazuhiko K; Nishio, Kazuto K
Publication Date: 2019-08-05

Variant appearance in text: SMARCA4: Glu1252*
PubMed Link: 31383922
Variant Present in the following documents:
  • 41598_2019_47673_MOESM1_ESM.pdf
View BVdb publication page