JAK2 c.1871T>C ;(p.L624P)

Variant ID: 9-5077459-T-C

NM_004972.3(JAK2):c.1871T>C;(p.L624P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 1871T>C; L624P
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: JAK2: L624P
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.

Genes & Cancer
Jatiani, Shashidhar S SS; Baker, Stacey J SJ; Silverman, Lewis R LR; Reddy, E Premkumar EP
Publication Date: 2010-10

Variant appearance in text: JAK2: L624P
PubMed Link: 21442038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.

Bmc Structural Biology
Lee, Tai-Sung TS; Ma, Wanlong W; Zhang, Xi X; Kantarjian, Hagop H; Albitar, Maher M
Publication Date: 2009-09-10

Variant appearance in text: JAK2: L624P
PubMed Link: 19744331
Variant Present in the following documents:
  • Main text
  • 1472-6807-9-58.pdf
View BVdb publication page



Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias.

The Journal Of Molecular Diagnostics : Jmd
Ma, Wanlong W; Kantarjian, Hagop H; Zhang, Xi X; Yeh, Chen-Hsiung CH; Zhang, Zhong J ZJ; Verstovsek, Srdan S; Albitar, Maher M
Publication Date: 2009-01

Variant appearance in text: JAK2: L624P
PubMed Link: 19074595
Variant Present in the following documents:
  • Main text
View BVdb publication page