SMARCA4 c.3443A>C ;(p.E1148A)

Variant ID: 19-11141466-A-C

NM_003072.3(SMARCA4):c.3443A>C;(p.E1148A)

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: E1148A
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Lysine Demethylase KDM6A in Differentiation, Development, and Cancer.

Molecular And Cellular Biology
Tran, Nhien N; Broun, Aaron A; Ge, Kai K
Publication Date: 2020-09-28

Variant appearance in text: BRG1: E1148A
PubMed Link: 32817139
Variant Present in the following documents:
  • Main text
View BVdb publication page