JAK2 c.2128G>A ;(p.D710N)

Variant ID: 9-5078441-G-A

NM_004972.3(JAK2):c.2128G>A;(p.D710N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.

Cells
Koppolu, Agnieszka A; Maksym, Radosław B RB; Paskal, Wiktor W; Machnicki, Marcin M; Rak, Beata B; Pępek, Monika M; Garbicz, Filip F; Pełka, Kacper K; Kuśmierczyk, Zofia Z; Jacko, Joanna J; Rydzanicz, Małgorzata M; Banach-Orłowska, Magdalena M; Stokłosa, Tomasz T; Płoski, Rafał R; Malejczyk, Jacek J; Włodarski, Paweł K PK
Publication Date: 2021-03-29

Variant appearance in text: JAK2: 2128G>A
PubMed Link: 33805315
Variant Present in the following documents:
  • Main text
  • cells-10-00749.pdf
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: JAK2: D710N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page