SMARCA4 c.3484G>C ;(p.G1162R)

Variant ID: 19-11141507-G-C

NM_003072.3(SMARCA4):c.3484G>C;(p.G1162R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: SMARCA4: G1162R
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: SMARCA4: 3484G>C; Gly1162Arg
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: SMARCA4: G1162R
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 13
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: G1162R
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SMARCA4: G1162R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: SMARCA4: 3484G>C; G1162R
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Cell Reports
Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM
Publication Date: 2018-04-03

Variant appearance in text: SMARCA4: 3484G>C; G1162R
PubMed Link: 29617669
Variant Present in the following documents:
  • NIHMS958988-supplement-3.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: SMARCA4: Gly1162Arg
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page