JAK2 c.2082C>G ;(p.F694L)

Variant ID: 9-5078395-C-G

NM_004972.3(JAK2):c.2082C>G;(p.F694L)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Clinical features and prognosis of pediatric acute lymphocytic leukemia with JAK-STAT pathway genetic abnormalities: a case series.

Annals Of Hematology
Hu, Mengze M; Liu, Rong R; Li, Juanjuan J; Zhang, Lei L; Cao, Jing J; Yue, Mei M; Zhong, Dixiao D; Tang, Ruihong R
Publication Date: 2023-05-20

Variant appearance in text: JAK2: F694L
PubMed Link: 37209119
Variant Present in the following documents:
  • 277_2023_Article_5245.pdf
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Philadelphia-like acute lymphoblastic leukemia: the journey from molecular background to the role of bone marrow transplant-review article.

Annals Of Hematology
Alghandour, Reham R; Sakr, Doaa H DH; Shaaban, Yasmin Y
Publication Date: 2023-05-02

Variant appearance in text: JAK2: F694L
PubMed Link: 37129698
Variant Present in the following documents:
  • 277_2023_Article_5241.pdf
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Novel pharmacological and dietary approaches to target mTOR in B-cell acute lymphoblastic leukemia.

Frontiers In Oncology
Buono, Roberta R; Alhaddad, Muneera M; Fruman, David A DA
Publication Date: 2023

Variant appearance in text: JAK2: F694L
PubMed Link: 37124486
Variant Present in the following documents:
  • fonc-13-1162694.pdf
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Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery
Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT
Publication Date: 2022-11-02

Variant appearance in text: JAK2: F694L
PubMed Link: 35960210
Variant Present in the following documents:
  • bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10
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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: F694L
PubMed Link: 35903543
Variant Present in the following documents:
  • fcell-10-942053.pdf
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Diagnosis and Treatment of Myeloproliferative Neoplasms With PCM1-JAK2 Rearrangement: Case Report and Literature Review.

Frontiers In Oncology
Sun, Yingxin Y; Cai, Yifeng Y; Chen, Jia J; Cen, Jiannong J; Zhu, Mingqing M; Pan, Jinlan J; Wu, Depei D; Sun, Aining A; Chen, Suning S
Publication Date: 2021

Variant appearance in text: JAK2: F694L
PubMed Link: 34707996
Variant Present in the following documents:
  • Main text
  • fonc-11-753842.pdf
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Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.

Cold Spring Harbor Molecular Case Studies
Lalonde, Emilie E; Rentas, Stefan S; Wertheim, Gerald G; Cao, Kajia K; Surrey, Lea F LF; Lin, Fumin F; Zhao, Xiaonan X; Obstfeld, Amrom A; Aplenc, Richard R; Luo, Minjie M; Li, Marilyn M MM
Publication Date: 2021-04

Variant appearance in text: JAK2: Phe694Leu
PubMed Link: 33832921
Variant Present in the following documents:
  • Main text
  • MCS005975Lal.pdf
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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: JAK2: F694L
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Optimal therapy for adolescents and young adults with acute lymphoblastic leukemia-current perspectives.

Blood Research
Lee, Jae Wook JW
Publication Date: 2020-07-31

Variant appearance in text: JAK2: F694L
PubMed Link: 32719173
Variant Present in the following documents:
  • BR-55-S027.pdf
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Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers
Hamid, Abdulaziz B AB; Petreaca, Ruben C RC
Publication Date: 2020-04-09

Variant appearance in text: JAK2: F694L
PubMed Link: 32283832
Variant Present in the following documents:
  • cancers-12-00927-s001.pdf
View BVdb publication page



Mechanism of homodimeric cytokine receptor activation and dysregulation by oncogenic mutations.

Science (New York, N.Y.)
Wilmes, Stephan S; Hafer, Maximillian M; Vuorio, Joni J; Tucker, Julie A JA; Winkelmann, Hauke H; Löchte, Sara S; Stanly, Tess A TA; Pulgar Prieto, Katiuska D KD; Poojari, Chetan C; Sharma, Vivek V; Richter, Christian P CP; Kurre, Rainer R; Hubbard, Stevan R SR; Garcia, K Christopher KC; Moraga, Ignacio I; Vattulainen, Ilpo I; Hitchcock, Ian S IS; Piehler, Jacob J
Publication Date: 2020-02-07

Variant appearance in text: JAK2: F694L
PubMed Link: 32029621
Variant Present in the following documents:
  • Main text
View BVdb publication page



How I diagnose and manage Philadelphia chromosome-like acute lymphoblastic leukemia.

Haematologica
Frisch, Avraham A; Ofran, Yishai Y
Publication Date: 2019-11

Variant appearance in text: JAK2: F694L
PubMed Link: 31582548
Variant Present in the following documents:
  • 1042135.pdf
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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: JAK2: 2082C>G; F694L
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports
Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD
Publication Date: 2019-03-12

Variant appearance in text: JAK2: F694L
PubMed Link: 30862934
Variant Present in the following documents:
  • 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



New biological and genetic classification and therapeutically relevant categories in childhood B-cell precursor acute lymphoblastic leukemia.

F1000Research
Starý, Jan J; Zuna, Jan J; Zaliova, Marketa M
Publication Date: 2018

Variant appearance in text: JAK2: F694L
PubMed Link: 30345005
Variant Present in the following documents:
  • f1000research-7-17554.pdf
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Clinical efficacy of ruxolitinib and chemotherapy in a child with Philadelphia chromosome-like acute lymphoblastic leukemia with GOLGA5-JAK2 fusion and induction failure.

Haematologica
Ding, Yang Y YY; Stern, Julie W JW; Jubelirer, Tracey F TF; Wertheim, Gerald B GB; Lin, Fumin F; Chang, Fengqi F; Gu, Zhaohui Z; Mullighan, Charles G CG; Li, Yong Y; Harvey, Richard C RC; Chen, I-Ming IM; Willman, Cheryl L CL; Hunger, Stephen P SP; Li, Marilyn M MM; Tasian, Sarah K SK
Publication Date: 2018-09

Variant appearance in text: JAK2: F694L
PubMed Link: 29773603
Variant Present in the following documents:
  • Main text
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A phase II study of the oral JAK1/JAK2 inhibitor ruxolitinib in advanced relapsed/refractory Hodgkin lymphoma.

Haematologica
Van Den Neste, Eric E; André, Marc M; Gastinne, Thomas T; Stamatoullas, Aspasia A; Haioun, Corinne C; Belhabri, Amine A; Reman, Oumedaly O; Casasnovas, Olivier O; Ghesquieres, Hervé H; Verhoef, Gregor G; Claessen, Marie-José MJ; Poirel, Hélène A HA; Copin, Marie-Christine MC; Dubois, Romain R; Vandenberghe, Peter P; Stoian, Ioanna-Andrea IA; Cottereau, Anne S AS; Bailly, Sarah S; Knoops, Laurent L; Morschhauser, Franck F
Publication Date: 2018-05

Variant appearance in text: JAK2: F694L
PubMed Link: 29351986
Variant Present in the following documents:
  • 1030840.pdf
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High incidence of Philadelphia chromosome-like acute lymphoblastic leukemia in older adults with B-ALL.

Leukemia
Tasian, S K SK; Hurtz, C C; Wertheim, G B GB; Bailey, N G NG; Lim, M S MS; Harvey, R C RC; Chen, I-M IM; Willman, C L CL; Astles, R R; Zebrowski, A A; Reshmi, S C SC; Li, M M MM; Frey, N V NV; Luger, S M SM; Carroll, M M; Perl, A E AE
Publication Date: 2017-04

Variant appearance in text: JAK2: F694L
PubMed Link: 27932787
Variant Present in the following documents:
  • NIHMS832531-supplement-2.xlsx, sheet 1
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Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: JAK2: F694L
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
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Integration of ruxolitinib into dose-intensified therapy targeted against a novel JAK2 F694L mutation in B-precursor acute lymphoblastic leukemia.

Pediatric Blood & Cancer
Mayfield, Jodi R JR; Czuchlewski, David R DR; Gale, James M JM; Matlawska-Wasowska, Ksenia K; Vasef, Mohammad A MA; Nickl, Christian C; Pickett, Gavin G; Ness, Scott A SA; Winter, Stuart S SS
Publication Date: 2017-05

Variant appearance in text: JAK2: F694L
PubMed Link: 27860260
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: F694L
PubMed Link: 25057888
Variant Present in the following documents:
  • Main text
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: F694L
PubMed Link: 19638629
Variant Present in the following documents:
  • Main text
View BVdb publication page