SMARCA4 c.3271A>G ;(p.K1091E)

Variant ID: 19-11138515-A-G

NM_003072.3(SMARCA4):c.3271A>G;(p.K1091E)

This variant was identified in 2 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: K1091E
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.

Embo Molecular Medicine
Benvenuti, Silvia S; Milan, Melissa M; Geuna, Elena E; Pisacane, Alberto A; Senetta, Rebecca R; Gambardella, Gennaro G; Stella, Giulia M GM; Montemurro, Filippo F; Sapino, Anna A; Boccaccio, Carla C; Comoglio, Paolo M PM
Publication Date: 2020-07-07

Variant appearance in text: SMARCA4: K1091E
PubMed Link: 32511869
Variant Present in the following documents:
  • EMMM-12-e11756-s005.xlsx, sheet 1
View BVdb publication page