SMARCA4 c.3583C>T ;(p.Q1195*)

Variant ID: 19-11144002-C-T

NM_003072.3(SMARCA4):c.3583C>T;(p.Q1195*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: SMARCA4: Q1195*
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.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: Q1195*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01

Variant appearance in text: SMARCA4: 3583C>T; Gln1195*
PubMed Link: 32508039
Variant Present in the following documents:
  • CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page



BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Nature Communications
Aref-Eshghi, Erfan E; Bend, Eric G EG; Hood, Rebecca L RL; Schenkel, Laila C LC; Carere, Deanna Alexis DA; Chakrabarti, Rana R; Nagamani, Sandesh C S SCS; Cheung, Sau Wai SW; Campeau, Philippe M PM; Prasad, Chitra C; Siu, Victoria Mok VM; Brady, Lauren L; Tarnopolsky, Mark A MA; Callen, David J DJ; Innes, A Micheil AM; White, Susan M SM; Meschino, Wendy S WS; Shuen, Andrew Y AY; Paré, Guillaume G; Bulman, Dennis E DE; Ainsworth, Peter J PJ; Lin, Hanxin H; Rodenhiser, David I DI; Hennekam, Raoul C RC; Boycott, Kym M KM; Schwartz, Charles E CE; Sadikovic, Bekim B
Publication Date: 2018-11-20

Variant appearance in text: SMARCA4: 3583C>T
PubMed Link: 30459321
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7193.pdf
View BVdb publication page