SMARCA4 c.1150G>T ;(p.E384*)

Variant ID: 19-11100024-G-T

NM_003072.3(SMARCA4):c.1150G>T;(p.E384*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Response to 'Is the case really a SMARCA4-deficient thoracic sarcoma?'

Thoracic Cancer
Takada, Kohichi K; Sugita, Shintaro S; Hasegawa, Tadashi T
Publication Date: 2021-01

Variant appearance in text: SMARCA4: E384*
PubMed Link: 33210422
Variant Present in the following documents:
  • Main text
  • TCA-12-141.pdf
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: E384*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page