SMARCA4 c.504C>G ;(p.G168=)

Variant ID: 19-11097013-C-G

NM_003072.3(SMARCA4):c.504C>G;(p.G168=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: SMARCA4: G168G
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.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: G168G
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Nature Communications
Aref-Eshghi, Erfan E; Bend, Eric G EG; Hood, Rebecca L RL; Schenkel, Laila C LC; Carere, Deanna Alexis DA; Chakrabarti, Rana R; Nagamani, Sandesh C S SCS; Cheung, Sau Wai SW; Campeau, Philippe M PM; Prasad, Chitra C; Siu, Victoria Mok VM; Brady, Lauren L; Tarnopolsky, Mark A MA; Callen, David J DJ; Innes, A Micheil AM; White, Susan M SM; Meschino, Wendy S WS; Shuen, Andrew Y AY; Paré, Guillaume G; Bulman, Dennis E DE; Ainsworth, Peter J PJ; Lin, Hanxin H; Rodenhiser, David I DI; Hennekam, Raoul C RC; Boycott, Kym M KM; Schwartz, Charles E CE; Sadikovic, Bekim B
Publication Date: 2018-11-20

Variant appearance in text: SMARCA4: Gly168=
PubMed Link: 30459321
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7193.pdf
View BVdb publication page