SMARCA4 c.700C>T ;(p.P234S)

Variant ID: 19-11097209-C-T

NM_003072.3(SMARCA4):c.700C>T;(p.P234S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: SMARCA4: Pro234Ser
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
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: P234S
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Reconstructing clonal evolution in relapsed and non-relapsed Burkitt lymphoma.

Leukemia
Reutter, Katrin K; Sandmann, Sarah S; Rohde, Jonas J; Müller, Stephanie S; Wöste, Marius M; Khanam, Tasneem T; Michgehl, Ulf U; Klapper, Wolfram W; Wößmann, Wilhelm W; Seggewiß, Jochen J; Lenz, Georg G; Dugas, Martin M; Burkhardt, Birgit B
Publication Date: 2021-02

Variant appearance in text: SMARCA4: 700C>T
PubMed Link: 32404974
Variant Present in the following documents:
  • 41375_2020_862_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Pediatric Research
Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM
Publication Date: 2020-03

Variant appearance in text: SMARCA4: 700C>T
PubMed Link: 31618753
Variant Present in the following documents:
  • NIHMS1541080-supplement-Supp_Tables_1-2.xlsx, sheet 1
View BVdb publication page