SMARCA4 c.1172C>T ;(p.S391F)

Variant ID: 19-11100046-C-T

NM_003072.3(SMARCA4):c.1172C>T;(p.S391F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
BirkeƤlv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: SMARCA4: 1172C>T; S391F
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Programmed cell death ligand 1 expression in aggressive pediatric non-Hodgkin lymphomas: frequency, genetic mechanisms, and clinical significance.

Haematologica
Fisher, Kevin E KE; Ferguson, Lizmery S LS; Coffey, Amy M AM; Merritt, Brian Y BY; Curry, Jonathan L JL; Marcogliese, Andrea N AN; Major, Angela M AM; Kamdar, Kala Y KY; Lopez-Terrada, Dolores H DH; Curry, Choladda V CV
Publication Date: 2022-08-01

Variant appearance in text: SMARCA4: 1172C>T
PubMed Link: 35081690
Variant Present in the following documents:
  • 2021_280342_FISHER_SUPPL.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: S391F
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clonal replacement of tumor-specific T cells following PD-1 blockade.

Nature Medicine
Yost, Kathryn E KE; Satpathy, Ansuman T AT; Wells, Daniel K DK; Qi, Yanyan Y; Wang, Chunlin C; Kageyama, Robin R; McNamara, Katherine L KL; Granja, Jeffrey M JM; Sarin, Kavita Y KY; Brown, Ryanne A RA; Gupta, Rohit K RK; Curtis, Christina C; Bucktrout, Samantha L SL; Davis, Mark M MM; Chang, Anne Lynn S ALS; Chang, Howard Y HY
Publication Date: 2019-08

Variant appearance in text: SMARCA4: 1172C>T; S391F
PubMed Link: 31359002
Variant Present in the following documents:
  • NIHMS1531727-supplement-2.xlsx, sheet 2
View BVdb publication page