SMARCA4 c.3140A>G ;(p.N1047S)

Variant ID: 19-11136156-A-G

NM_003072.3(SMARCA4):c.3140A>G;(p.N1047S)

This variant was identified in 3 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: N1047S
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: SMARCA4: 3140A>G
PubMed Link: 29559732
Variant Present in the following documents:
  • 41416_2018_46_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.

The Journal Of Pathology. Clinical Research
Jour, George G; Wang, Lu L; Middha, Sumit S; Zehir, Ahmet A; Chen, Wen W; Sadowska, Justyna J; Healey, John J; Agaram, Narasimhan P NP; Choi, Lisa L; Nafa, Khedoudja K; Hameed, Meera M
Publication Date: 2016-01

Variant appearance in text: SMARCA4: 3140A>G
PubMed Link: 27499911
Variant Present in the following documents:
  • Main text
View BVdb publication page