F2 c.913G>A ;(p.E305K)

Variant ID: 11-46748086-G-A

NM_000506.3(F2):c.913G>A;(p.E305K)

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: F2: E305K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: F2: E305K
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Using C. elegans Forward and Reverse Genetics to Identify New Compounds with Anthelmintic Activity.

Plos Neglected Tropical Diseases
Mathew, Mark D MD; Mathew, Neal D ND; Miller, Angela A; Simpson, Mike M; Au, Vinci V; Garland, Stephanie S; Gestin, Marie M; Edgley, Mark L ML; Flibotte, Stephane S; Balgi, Aruna A; Chiang, Jennifer J; Giaever, Guri G; Dean, Pamela P; Tung, Audrey A; Roberge, Michel M; Roskelley, Calvin C; Forge, Tom T; Nislow, Corey C; Moerman, Donald D
Publication Date: 2016-10

Variant appearance in text: F2: E305K
PubMed Link: 27755544
Variant Present in the following documents:
  • Main text
  • pntd.0005058.pdf
View BVdb publication page