JAK2 c.1901T>C ;(p.L634P)

Variant ID: 9-5077489-T-C

NM_004972.3(JAK2):c.1901T>C;(p.L634P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.

European Journal Of Human Genetics : Ejhg
Tawana, Kiran K; Wang, Jun J; Király, Péter A PA; Kállay, Krisztián K; Benyó, Gábor G; Zombori, Marianna M; Csomor, Judit J; Al Seraihi, Ahad A; Rio-Machin, Ana A; Matolcsy, András A; Chelala, Claude C; Cavenagh, Jamie J; Fitzgibbon, Jude J; Bödör, Csaba C
Publication Date: 2017-08

Variant appearance in text: JAK2: 1901T>C
PubMed Link: 28513614
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: JAK2: 1901T>C; L634P
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development.

Leukemia
Roncero, A M AM; López-Nieva, P P; Cobos-Fernández, M A MA; Villa-Morales, M M; González-Sánchez, L L; López-Lorenzo, J L JL; Llamas, P P; Ayuso, C C; Rodríguez-Pinilla, S M SM; Arriba, M C MC; Piris, M A MA; Fernández-Navarro, P P; Fernández, A F AF; Fraga, M F MF; Santos, J J; Fernández-Piqueras, J J
Publication Date: 2016-01

Variant appearance in text: JAK2: L634P
PubMed Link: 26216197
Variant Present in the following documents:
  • Main text
  • leu2015202a.pdf
View BVdb publication page