JAK2 c.2059_2060delinsCA ;(p.R687Q)

Variant ID: 9-5078372-AG-CA

NM_004972.3(JAK2):c.2059_2060delinsCA;(p.R687Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


JAK2 Alterations in Acute Lymphoblastic Leukemia: Molecular Insights for Superior Precision Medicine Strategies.

Frontiers In Cell And Developmental Biology
Downes, Charlotte Ej CE; McClure, Barbara J BJ; McDougal, Daniel P DP; Heatley, Susan L SL; Bruning, John B JB; Thomas, Daniel D; Yeung, David T DT; White, Deborah L DL
Publication Date: 2022

Variant appearance in text: JAK2: R687Q
PubMed Link: 35903543
Variant Present in the following documents:
  • Main text
  • fcell-10-942053.pdf
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Single-cell analysis based dissection of clonality in myelofibrosis.

Nature Communications
Mylonas, Elena E; Yoshida, Kenichi K; Frick, Mareike M; Hoyer, Kaja K; Christen, Friederike F; Kaeda, Jaspal J; Obenaus, Matthias M; Noerenberg, Daniel D; Hennch, Cornelius C; Chan, Willy W; Ochi, Yotaro Y; Shiraishi, Yuichi Y; Shiozawa, Yusuke Y; Zenz, Thorsten T; Oakes, Christopher C CC; Sawitzki, Birgit B; Schwarz, Michaela M; Bullinger, Lars L; le Coutre, Philipp P; Rose-Zerilli, Matthew J J MJJ; Ogawa, Seishi S; Damm, Frederik F
Publication Date: 2020-01-07

Variant appearance in text: JAK2: R687Q
PubMed Link: 31911629
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_13892.pdf
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The sympathomimetic agonist mirabegron did not lower JAK2-V617F allele burden, but restored nestin-positive cells and reduced reticulin fibrosis in patients with myeloproliferative neoplasms: results of phase II study SAKK 33/14.

Haematologica
Drexler, Beatrice B; Passweg, Jakob R JR; Tzankov, Alexandar A; Bigler, Martin M; Theocharides, Alexandre Pa AP; Cantoni, Nathan N; Keller, Peter P; Stussi, Georg G; Ruefer, Axel A; Benz, Rudolf R; Favre, Geneviève G; Lundberg, Pontus P; Nienhold, Ronny R; Fuhrer, Andrea A; Biaggi, Christine C; Manz, Markus G MG; Bargetzi, Mario M; Mendez-Ferrer, Simon S; Skoda, Radek C RC; ,
Publication Date: 2019-04

Variant appearance in text: JAK2: R687Q
PubMed Link: 30409796
Variant Present in the following documents:
  • 1040710.pdf
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The promise of Janus kinase inhibitors in the treatment of hematological malignancies.

Cytokine
Senkevitch, Emilee E; Durum, Scott S
Publication Date: 2017-10

Variant appearance in text: JAK2: R687Q
PubMed Link: 28277287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults.

Blood
Jain, Nitin N; Roberts, Kathryn G KG; Jabbour, Elias E; Patel, Keyur K; Eterovic, Agda Karina AK; Chen, Ken K; Zweidler-McKay, Patrick P; Lu, Xinyan X; Fawcett, Gloria G; Wang, Sa A SA; Konoplev, Sergej S; Harvey, Richard C RC; Chen, I-Ming IM; Payne-Turner, Debbie D; Valentine, Marcus M; Thomas, Deborah D; Garcia-Manero, Guillermo G; Ravandi, Farhad F; Cortes, Jorge J; Kornblau, Steven S; O'Brien, Susan S; Pierce, Sherry S; Jorgensen, Jeffrey J; Shaw, Kenna R Mills KR; Willman, Cheryl L CL; Mullighan, Charles G CG; Kantarjian, Hagop H; Konopleva, Marina M
Publication Date: 2017-02-02

Variant appearance in text: JAK2: R687Q
PubMed Link: 27919910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined targeting of JAK2 and Bcl-2/Bcl-xL to cure mutant JAK2-driven malignancies and overcome acquired resistance to JAK2 inhibitors.

Cell Reports
Waibel, Michaela M; Solomon, Vanessa S VS; Knight, Deborah A DA; Ralli, Rachael A RA; Kim, Sang-Kyu SK; Banks, Kellie-Marie KM; Vidacs, Eva E; Virely, Clemence C; Sia, Keith C S KC; Bracken, Lauryn S LS; Collins-Underwood, Racquel R; Drenberg, Christina C; Ramsey, Laura B LB; Meyer, Sara C SC; Takiguchi, Megumi M; Dickins, Ross A RA; Levine, Ross R; Ghysdael, Jacques J; Dawson, Mark A MA; Lock, Richard B RB; Mullighan, Charles G CG; Johnstone, Ricky W RW
Publication Date: 2013-11-27

Variant appearance in text: JAK2: R687Q
PubMed Link: 24268771
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • mmc1.pdf
View BVdb publication page