SMARCA4 c.2646A>C ;(p.E882D)

Variant ID: 19-11132430-A-C

NM_003072.3(SMARCA4):c.2646A>C;(p.E882D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: E882D
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
  • 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: E882D
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: E882D
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Integrative Analysis Defines Distinct Prognostic Subgroups of Intrahepatic Cholangiocarcinoma.

Hepatology (Baltimore, Md.)
Goeppert, Benjamin B; Toth, Reka R; Singer, Stephan S; Albrecht, Thomas T; Lipka, Daniel B DB; Lutsik, Pavlo P; Brocks, David D; Baehr, Marion M; Muecke, Oliver O; Assenov, Yassen Y; Gu, Lei L; Endris, Volker V; Stenzinger, Albrecht A; Mehrabi, Arianeb A; Schirmacher, Peter P; Plass, Christoph C; Weichenhan, Dieter D; Roessler, Stephanie S
Publication Date: 2019-05

Variant appearance in text: SMARCA4: 2646A>C; E882D
PubMed Link: 30615206
Variant Present in the following documents:
  • Main text
  • HEP-69-2091.pdf
View BVdb publication page



Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers.

Nature Structural & Molecular Biology
Hodges, H Courtney HC; Stanton, Benjamin Z BZ; Cermakova, Katerina K; Chang, Chiung-Ying CY; Miller, Erik L EL; Kirkland, Jacob G JG; Ku, Wai Lim WL; Veverka, Vaclav V; Zhao, Keji K; Crabtree, Gerald R GR
Publication Date: 2018-01

Variant appearance in text: SMARCA4: E882D
PubMed Link: 29323272
Variant Present in the following documents:
  • Main text
  • nihms928250.pdf
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: Glu882Asp
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page