PALB2 c.1137G>T ;(p.K379N)

Variant ID: 16-23646730-C-A

NM_024675.3(PALB2):c.1137G>T;(p.K379N)

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: PALB2: K379N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response.

The Journal Of Biological Chemistry
Guo, Yingying Y; Feng, Wanjuan W; Sy, Shirley M H SM; Huen, Michael S Y MS
Publication Date: 2015-11-13

Variant appearance in text: PALB2: K379N
PubMed Link: 26420486
Variant Present in the following documents:
  • Main text
View BVdb publication page