SMARCA4 c.2193C>A ;(p.Y731*)

Variant ID: 19-11121126-C-A

NM_003072.3(SMARCA4):c.2193C>A;(p.Y731*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary.

The Oncologist
Fusco, Michael J MJ; Knepper, Todd C TC; Balliu, Juliana J; Del Cueto, Alex A; Laborde, Jose M JM; Hooda, Sharjeel M SM; Brohl, Andrew S AS; Bui, Marilyn M MM; Hicks, J Kevin JK
Publication Date: 2022-02-03

Variant appearance in text: SMARCA4: Y731*
PubMed Link: 35305098
Variant Present in the following documents:
  • oyab014_suppl_supplementary_appendix_1.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: Y731*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page