F8 c.6066C>G ;(p.G2022=)

Variant ID: X-154130375-G-C

NM_000132.3(F8):c.6066C>G;(p.G2022=)

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: F8: G2022G
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.

Blood Advances
Johnsen, Jill M JM; Fletcher, Shelley N SN; Huston, Haley H; Roberge, Sarah S; Martin, Beth K BK; Kircher, Martin M; Josephson, Neil C NC; Shendure, Jay J; Ruuska, Sarah S; Koerper, Marion A MA; Morales, Jaime J; Pierce, Glenn F GF; Aschman, Diane J DJ; Konkle, Barbara A BA
Publication Date: 2017-05-23

Variant appearance in text: F8: 6066C>G
PubMed Link: 29296726
Variant Present in the following documents:
  • Main text
View BVdb publication page