RPS2 c.626T>C ;(p.V209A)

Variant ID: 16-2012581-A-G

NM_002952.3(RPS2):c.626T>C;(p.V209A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: RPS2: V209A
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: RPS2: 549+156T>C; Val209Ala
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Ribosomopathy-like properties of murine and human cancers.

Plos One
Kulkarni, Sucheta S; Dolezal, James M JM; Wang, Huabo H; Jackson, Laura L; Lu, Jie J; Frodey, Brian P BP; Dosunmu-Ogunbi, Atinuke A; Li, Youjun Y; Fromherz, Marc M; Kang, Audry A; Santana-Santos, Lucas L; Benos, Panayiotis V PV; Prochownik, Edward V EV
Publication Date: 2017

Variant appearance in text: RPS2: V209A
PubMed Link: 28820908
Variant Present in the following documents:
  • pone.0182705.s001.pdf
View BVdb publication page