GPNMB c.1002A>C ;(p.K334N)

Variant ID: 7-23300376-A-C

NM_002510.2(GPNMB):c.1002A>C;(p.K334N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology
Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T
Publication Date: 2022-07-14

Variant appearance in text: HGFIN: K334N
PubMed Link: 35836176
Variant Present in the following documents:
  • 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



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: GPNMB: K334N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page