JAK2 c.1439G>T ;(p.C480F)

Variant ID: 9-5069134-G-T

NM_004972.3(JAK2):c.1439G>T;(p.C480F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.

Inflammatory Bowel Diseases
Denson, Lee A LA; Jurickova, Ingrid I; Karns, Rebekah R; Shaw, Kelly A KA; Cutler, David J DJ; Okou, David D; Valencia, C Alexander CA; Dodd, Anne A; Mondal, Kajari K; Aronow, Bruce J BJ; Haberman, Yael Y; Linn, Aaron A; Price, Adam A; Bezold, Ramona R; Lake, Kathleen K; Jackson, Kimberly K; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen L SL; Dubinsky, Marla C MC; Leleiko, Neal S NS; Otley, Anthony R AR; Xavier, Ramnik J RJ; Stevens, Christine C; Daly, Mark J MJ; Zwick, Michael E ME; Kugathasan, Subra S
Publication Date: 2019-02-21

Variant appearance in text: JAK2: 1439G>T; Cys480Phe
PubMed Link: 30124884
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: JAK2: 1439G>T; Cys480Phe; rs62637623
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page