SMARCA4 c.4438C>T ;(p.Q1480*)

Variant ID: 19-11168944-C-T

NM_003072.3(SMARCA4):c.4438C>T;(p.Q1480*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Exploration of the immunogenetic landscape of hyperprogressive disease after combined immunotherapy in cancer patients.

Iscience
Gong, Caifeng C; Zhang, Wen W; Sun, Yongkun Y; Shou, Jianzhong J; Jiang, Zhichao Z; Liu, Tianyi T; Wang, Shengzhou S; Liu, Jun J; Sun, Ying Y; Zhou, Aiping A
Publication Date: 2023-06-16

Variant appearance in text: SMARCA4: Q1480*
PubMed Link: 37255657
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: SMARCA4: 4438C>T; Q1480*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
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: Q1480*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

The Journal Of Pathology
Ota, Ryosuke R; Sawada, Takeshi T; Tsuyama, Sho S; Sasaki, Yasushi Y; Suzuki, Hiromu H; Kaizaki, Yasuharu Y; Hasatani, Kenkei K; Yamamoto, Eiichiro E; Nakanishi, Hiroyoshi H; Inagaki, Satoko S; Tsuji, Shigetsugu S; Yoshida, Naohiro N; Doyama, Hisashi H; Minato, Hiroshi H; Nakamura, Keishi K; Kasashima, Satomi S; Kubota, Eiji E; Kataoka, Hiromi H; Tokino, Takashi T; Yao, Takashi T; Minamoto, Toshinari T
Publication Date: 2020-11

Variant appearance in text: SMARCA4: Gln1480Ter
PubMed Link: 32770675
Variant Present in the following documents:
  • PATH-252-330-s002.xlsx, sheet 8
View BVdb publication page