JAK2 c.1616A>T ;(p.K539I)

Variant ID: 9-5070027-A-T

NM_004972.3(JAK2):c.1616A>T;(p.K539I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1616A>T; Lys539Ile
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 8
View BVdb publication page



Myeloproliferative neoplasms: from origins to outcomes.

Hematology. American Society Of Hematology. Education Program
Nangalia, Jyoti J; Green, Anthony R AR
Publication Date: 2017-12-08

Variant appearance in text: JAK2: K539I
PubMed Link: 29222295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activating JAK2 mutants reveal cytokine receptor coupling differences that impact outcomes in myeloproliferative neoplasm.

Leukemia
Yao, H H; Ma, Y Y; Hong, Z Z; Zhao, L L; Monaghan, S A SA; Hu, M-C MC; Huang, L J LJ
Publication Date: 2017-10

Variant appearance in text: JAK2: K539I
PubMed Link: 28057939
Variant Present in the following documents:
  • Main text
  • NIHMS835685-supplement-1.pdf
  • nihms835685.pdf
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The molecular regulation of Janus kinase (JAK) activation.

The Biochemical Journal
Babon, Jeffrey J JJ; Lucet, Isabelle S IS; Murphy, James M JM; Nicola, Nicos A NA; Varghese, Leila N LN
Publication Date: 2014-08-15

Variant appearance in text: JAK2: K539I
PubMed Link: 25057888
Variant Present in the following documents:
  • Main text
View BVdb publication page



The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms.

Journal Of Hematology & Oncology
Wu, Zhiyuan Z; Zhang, Xinju X; Xu, Xiao X; Chen, Yuming Y; Hu, Tingting T; Kang, Zhihua Z; Li, Shibao S; Wang, Hua H; Liu, Weiwei W; Ma, Xiaochao X; Guan, Ming M
Publication Date: 2014-07-15

Variant appearance in text: JAK2: K539I
PubMed Link: 25023898
Variant Present in the following documents:
  • Main text
  • s13045-014-0048-6.pdf
View BVdb publication page



A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

The Journal Of Biological Chemistry
Zhao, Lequn L; Dong, Hongyun H; Zhang, Cheng Cheng CC; Kinch, Lisa L; Osawa, Mitsujiro M; Iacovino, Michelina M; Grishin, Nikolai V NV; Kyba, Michael M; Huang, Lily Jun-shen LJ
Publication Date: 2009-09-25

Variant appearance in text: JAK2: K539I
PubMed Link: 19638629
Variant Present in the following documents:
  • Main text
View BVdb publication page