SMARCA4 c.2941A>G ;(p.K981E)

Variant ID: 19-11134275-A-G

NM_003072.3(SMARCA4):c.2941A>G;(p.K981E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular Characterization and Prognostication of Large Cell Neuroendocrine Carcinoma and Large Cell Carcinoma.

Frontiers In Oncology
Chen, Ying Y; Cui, Xiaoying X; Wang, Di D; Xia, Guojie G; Xing, Minyan M; Cheng, Lei L; Sheng, Liming L; Du, Xianghui X
Publication Date: 2021

Variant appearance in text: SMARCA4: K981E
PubMed Link: 35096557
Variant Present in the following documents:
  • Table_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: K981E
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: SMARCA4: 2941A>G; Lys981Glu
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

Nature Communications
López, Cristina C; Kleinheinz, Kortine K; Aukema, Sietse M SM; Rohde, Marius M; Bernhart, Stephan H SH; Hübschmann, Daniel D; Wagener, Rabea R; Toprak, Umut H UH; Raimondi, Francesco F; Kreuz, Markus M; Waszak, Sebastian M SM; Huang, Zhiqin Z; Sieverling, Lina L; Paramasivam, Nagarajan N; Seufert, Julian J; Sungalee, Stephanie S; Russell, Robert B RB; Bausinger, Julia J; Kretzmer, Helene H; Ammerpohl, Ole O; Bergmann, Anke K AK; Binder, Hans H; Borkhardt, Arndt A; Brors, Benedikt B; Claviez, Alexander A; Doose, Gero G; Feuerbach, Lars L; Haake, Andrea A; Hansmann, Martin-Leo ML; Hoell, Jessica J; Hummel, Michael M; Korbel, Jan O JO; Lawerenz, Chris C; Lenze, Dido D; Radlwimmer, Bernhard B; Richter, Julia J; Rosenstiel, Philip P; Rosenwald, Andreas A; Schilhabel, Markus B MB; Stein, Harald H; Stilgenbauer, Stephan S; Stadler, Peter F PF; Szczepanowski, Monika M; Weniger, Marc A MA; Zapatka, Marc M; Eils, Roland R; Lichter, Peter P; Loeffler, Markus M; Möller, Peter P; Trümper, Lorenz L; Klapper, Wolfram W; , ; Hoffmann, Steve S; Küppers, Ralf R; Burkhardt, Birgit B; Schlesner, Matthias M; Siebert, Reiner R
Publication Date: 2019-03-29

Variant appearance in text: SMARCA4: K981E
PubMed Link: 30926794
Variant Present in the following documents:
  • 41467_2019_8578_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page