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

Variant ID: 19-11123640-T-A

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

This variant was identified in 8 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



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: SMARCA4: 2290T>A; W764R
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
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 computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 2290T>A; W764R
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
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