FDXR c.455G>A ;(p.C152Y)

Variant ID: 17-72862305-C-T

NM_024417.2(FDXR):c.455G>A;(p.C152Y)

This variant was identified in 2 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: FDXR: C152Y
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



A chemoproteomic portrait of the oncometabolite fumarate.

Nature Chemical Biology
Kulkarni, Rhushikesh A RA; Bak, Daniel W DW; Wei, Darmood D; Bergholtz, Sarah E SE; Briney, Chloe A CA; Shrimp, Jonathan H JH; Alpsoy, Aktan A; Thorpe, Abigail L AL; Bavari, Arissa E AE; Crooks, Daniel R DR; Levy, Michaella M; Florens, Laurence L; Washburn, Michael P MP; Frizzell, Norma N; Dykhuizen, Emily C EC; Weerapana, Eranthie E; Linehan, W Marston WM; Meier, Jordan L JL
Publication Date: 2019-04

Variant appearance in text: FDXR: C152Y
PubMed Link: 30718813
Variant Present in the following documents:
  • NIHMS1515442-supplement-Sup_Table_3.xlsx, sheet 2
  • NIHMS1515442-supplement-Sup_Table_3.xlsx, sheet 3
View BVdb publication page