SMARCA4 c.2290T>C ;(p.W764R)

Variant ID: 19-11123640-T-C

NM_003072.3(SMARCA4):c.2290T>C;(p.W764R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Critical Roles of Polycomb Repressive Complexes in Transcription and Cancer.

International Journal Of Molecular Sciences
Dong, Guan-Jun GJ; Xu, Jia-Le JL; Qi, Yu-Ruo YR; Yuan, Zi-Qiao ZQ; Zhao, Wen W
Publication Date: 2022-08-24

Variant appearance in text: BRG1: W764R
PubMed Link: 36076977
Variant Present in the following documents:
  • Main text
  • ijms-23-09574.pdf
View BVdb publication page



SMARCA4 deficiency-associated heterochromatin induces intrinsic DNA replication stress and susceptibility to ATR inhibition in lung adenocarcinoma.

Nar Cancer
Kurashima, Kiminori K; Kashiwagi, Hideto H; Shimomura, Iwao I; Suzuki, Ayako A; Takeshita, Fumitaka F; Mazevet, Marianne M; Harata, Masahiko M; Yamashita, Takayuki T; Yamamoto, Yusuke Y; Kohno, Takashi T; Shiotani, Bunsyo B
Publication Date: 2020-06

Variant appearance in text: SMARCA4: W764R
PubMed Link: 34316685
Variant Present in the following documents:
  • zcaa005_supplemental_file.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SMARCA4: 2290T>C; W764R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Expression inactivation of SMARCA4 by microRNAs in lung tumors.

Human Molecular Genetics
Coira, Isabel F IF; Rufino-Palomares, Eva E EE; Romero, Octavio A OA; Peinado, Paola P; Metheetrairut, Chanatip C; Boyero-Corral, Laura L; Carretero, Julian J; Farez-Vidal, Esther E; Cuadros, Marta M; Reyes-Zurita, Fernando J FJ; Lupiáñez, Jose A JA; Sánchez-Cespedes, Montse M; Slack, Frank J FJ; Medina, Pedro P PP
Publication Date: 2015-03-01

Variant appearance in text: SMARCA4: W764R
PubMed Link: 25355421
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: SMARCA4: W764R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



The tumour suppressor and chromatin-remodelling factor BRG1 antagonizes Myc activity and promotes cell differentiation in human cancer.

Embo Molecular Medicine
Romero, Octavio A OA; Setien, Fernando F; John, Sam S; Gimenez-Xavier, Pol P; Gómez-López, Gonzalo G; Pisano, David D; Condom, Enric E; Villanueva, Alberto A; Hager, Gordon L GL; Sanchez-Cespedes, Montse M
Publication Date: 2012-07

Variant appearance in text: BRG1: W764R
PubMed Link: 22407764
Variant Present in the following documents:
  • Main text
  • emmm0004-0603.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: SMARCA4: W764R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page