EPHA2 c.2338C>T ;(p.P780S)

Variant ID: 1-16458353-G-A

NM_004431.3(EPHA2):c.2338C>T;(p.P780S)

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: EPHA2: P780S
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: EPHA2: P780S
PubMed Link: 29267365
Variant Present in the following documents:
  • Main text
  • pone.0189881.s004.xlsx, sheet 3
  • pone.0189881.pdf
  • pone.0189881.s004.xlsx, sheet 1
  • pone.0189881.s004.xlsx, sheet 2
View BVdb publication page