SMARCA4 c.1484G>A ;(p.G495D)

Variant ID: 19-11105568-G-A

NM_003072.3(SMARCA4):c.1484G>A;(p.G495D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: SMARCA4: G495D
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: SMARCA4: G495D
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: G495D
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Phenotype-driven precision oncology as a guide for clinical decisions one patient at a time.

Nature Communications
Chia, Shumei S; Low, Joo-Leng JL; Zhang, Xiaoqian X; Kwang, Xue-Lin XL; Chong, Fui-Teen FT; Sharma, Ankur A; Bertrand, Denis D; Toh, Shen Yon SY; Leong, Hui-Sun HS; Thangavelu, Matan T MT; Hwang, Jacqueline S G JSG; Lim, Kok-Hing KH; Skanthakumar, Thakshayeni T; Tan, Hiang-Khoon HK; Su, Yan Y; Hui Choo, Siang S; Hentze, Hannes H; Tan, Iain B H IBH; Lezhava, Alexander A; Tan, Patrick P; Tan, Daniel S W DSW; Periyasamy, Giridharan G; Koh, Judice L Y JLY; Gopalakrishna Iyer, N N; DasGupta, Ramanuj R
Publication Date: 2017-09-05

Variant appearance in text: SMARCA4: G495D
PubMed Link: 28874669
Variant Present in the following documents:
  • 41467_2017_451_MOESM1_ESM.pdf
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: SMARCA4: 1484G>A
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page