SMARCA4 c.3067G>T ;(p.E1023*)

Variant ID: 19-11135100-G-T

NM_003072.3(SMARCA4):c.3067G>T;(p.E1023*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Case Report: A novel intergenic MIR4299/MIR8070-RET fusion with RET amplification and clinical response to pralsetinib in a lung adenocarcinoma patient.

Frontiers In Oncology
Wang, Sha-Sha SS; Wang, Fang F; Zeng, Zhen Z; Gao, Fang F; Liu, Huan-Huan HH; Wang, Hui-Na HN; Hu, Yi Y; Qin, Hai-Feng HF
Publication Date: 2022

Variant appearance in text: SMARCA4: E1023X
PubMed Link: 36226049
Variant Present in the following documents:
  • fonc-12-929763.pdf
View BVdb publication page



[Analysis of Clinicopathologic Features of 9 Cases of 
SMARCA4-deficient Non-small Cell Lung Cancer].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Zhao, Runan R; Zou, Yitan Y; Chen, Hongyuan H; Chen, Yanhua Y; Liu, Yanfang Y; He, Miaoxia M
Publication Date: 2022-08-20

Variant appearance in text: SMARCA4: Glu1023*
PubMed Link: 36002194
Variant Present in the following documents:
  • zgfazz-25-8-575.pdf
View BVdb publication page



Real-world data analysis of patients with cancer of unknown primary.

Scientific Reports
Kang, Sora S; Jeong, Jae Ho JH; Yoon, Shinkyo S; Yoo, Changhoon C; Kim, Kyu-Pyo KP; Cho, Hyungwoo H; Ryoo, Baek-Yeol BY; Jung, Jinhong J; Kim, Jeong Eun JE
Publication Date: 2021-11-29

Variant appearance in text: SMARCA4: E1023*
PubMed Link: 34845302
Variant Present in the following documents:
  • 41598_2021_2543_MOESM1_ESM.pdf
View BVdb publication page



Perspectives and Issues in the Assessment of SMARCA4 Deficiency in the Management of Lung Cancer Patients.

Cells
Armon, Subasri S; Hofman, Paul P; Ilié, Marius M
Publication Date: 2021-07-29

Variant appearance in text: SMARCA4: Glu1023*
PubMed Link: 34440689
Variant Present in the following documents:
  • Main text
  • cells-10-01920.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: E1023*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Cancer Science
Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T
Publication Date: 2019-04

Variant appearance in text: SMARCA4: E1023X
PubMed Link: 30742731
Variant Present in the following documents:
  • CAS-110-1480-s003.xlsx, sheet 3
View BVdb publication page