PRNP c.754G>T ;(p.V252L)

Variant ID: 20-4680620-G-T

NM_000311.3(PRNP):c.754G>T;(p.V252L)

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: PRNP: V252L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17

Variant appearance in text: PRNP: V252L
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
  • cells-09-01480.pdf
View BVdb publication page