SMARCA4 c.2735C>T ;(p.T912I)

Variant ID: 19-11132519-C-T

NM_003072.3(SMARCA4):c.2735C>T;(p.T912I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Haematologica
Künstner, Axel A; Witte, Hanno M HM; Riedl, Jörg J; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; Olschewski, Vito V; Peter, Wolfgang W; Ketzer, Julius J; Busch, Yannik Y; Trojok, Peter P; Bubnoff, Nikolas von NV; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-08-01

Variant appearance in text: SMARCA4: T912I
PubMed Link: 34788985
Variant Present in the following documents:
  • 2021_279631_KUNSTNER_TABS5_SUPPL.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: T912I
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Nature Communications
Findlay, John M JM; Castro-Giner, Francesc F; Makino, Seiko S; Rayner, Emily E; Kartsonaki, Christiana C; Cross, William W; Kovac, Michal M; Ulahannan, Danny D; Palles, Claire C; Gillies, Richard S RS; MacGregor, Thomas P TP; Church, David D; Maynard, Nicholas D ND; Buffa, Francesca F; Cazier, Jean-Baptiste JB; Graham, Trevor A TA; Wang, Lai-Mun LM; Sharma, Ricky A RA; Middleton, Mark M; Tomlinson, Ian I
Publication Date: 2016-04-05

Variant appearance in text: SMARCA4: 2735C>T; Thr912Ile
PubMed Link: 27045317
Variant Present in the following documents:
  • ncomms11111-s1.pdf
View BVdb publication page