JAK2 c.1633T>G ;(p.L545V)

Variant ID: 9-5070044-T-G

NM_004972.3(JAK2):c.1633T>G;(p.L545V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: L545V
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: L545V
PubMed Link: 21442038
Variant Present in the following documents:
  • Main text
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: L545V
PubMed Link: 19074595
Variant Present in the following documents:
  • Main text
View BVdb publication page