JAK2 c.1342G>A ;(p.E448K)

Variant ID: 9-5069037-G-A

NM_004972.3(JAK2):c.1342G>A;(p.E448K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma.

Haematologica
Bastidas Torres, Armando N AN; Cats, Davy D; Out-Luiting, Jacoba J JJ; Fanoni, Daniele D; Mei, Hailiang H; Venegoni, Luigia L; Willemze, Rein R; Vermeer, Maarten H MH; Berti, Emilio E; Tensen, Cornelis P CP
Publication Date: 2022-03-01

Variant appearance in text: JAK2: 1342G>A
PubMed Link: 33792220
Variant Present in the following documents:
  • 2020_274506_TORRES_SUPPL.pdf
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: JAK2: 1342G>A; Glu448Lys
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page