SMARCA4 c.1369G>T ;(p.E457*)

Variant ID: 19-11101949-G-T

NM_003072.3(SMARCA4):c.1369G>T;(p.E457*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Journal Of Personalized Medicine
Scheiter, Alexander A; Hierl, Frederik F; Winkel, Ingrid I; Keil, Felix F; Klier-Richter, Margit M; Coulouarn, Cédric C; Lüke, Florian F; Kandulski, Arne A; Evert, Matthias M; Dietmaier, Wolfgang W; Calvisi, Diego F DF; Utpatel, Kirsten K
Publication Date: 2022-08-01

Variant appearance in text: SMARCA4: E457*
PubMed Link: 36013219
Variant Present in the following documents:
  • jpm-12-01270.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: E457*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page