JAK2 c.38_39delinsAC ;(p.G13D)

Variant ID: 9-5022025-GA-AC

NM_004972.3(JAK2):c.38_39delinsAC;(p.G13D)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


TMEM25 inhibits monomeric EGFR-mediated STAT3 activation in basal state to suppress triple-negative breast cancer progression.

Nature Communications
Bi, Jing J; Wu, Zhihui Z; Zhang, Xin X; Zeng, Taoling T; Dai, Wanjun W; Qiu, Ningyuan N; Xu, Mingfeng M; Qiao, Yikai Y; Ke, Lang L; Zhao, Jiayi J; Cao, Xinyu X; Lin, Qi Q; Chen, Xiao Lei XL; Xie, Liping L; Ouyang, Zhong Z; Guo, Jujiang J; Zheng, Liangkai L; Ma, Chao C; Guo, Shiying S; Chen, Kangmei K; Mo, Wei W; Fu, Guo G; Zhao, Tong-Jin TJ; Wang, Hong-Rui HR
Publication Date: 2023-04-24

Variant appearance in text: JAK2: G13D
PubMed Link: 37095176
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_38115.pdf
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RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).

Plos Genetics
Rehn, Jacqueline J; Mayoh, Chelsea C; Heatley, Susan L SL; McClure, Barbara J BJ; Eadie, Laura N LN; Schutz, Caitlin C; Yeung, David T DT; Cowley, Mark J MJ; Breen, James J; White, Deborah L DL
Publication Date: 2022-10

Variant appearance in text: JAK2: G13D
PubMed Link: 36251721
Variant Present in the following documents:
  • pgen.1010300.pdf
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Unified gene expression signature of novel NPM1 exon 5 mutations in acute myeloid leukemia.

Blood Advances
Lisi, Véronique V; Blanchard, Ève È; Vladovsky, Michael M; Audemard, Éric É; Ferghaly, Albert A; Lemieux, Sébastien S; Hébert, Josée J; Sauvageau, Guy G; Lavallée, Vincent-Philippe VP
Publication Date: 2022-09-13

Variant appearance in text: JAK2: Gly13Asp
PubMed Link: 35849707
Variant Present in the following documents:
  • advancesADV2022007300-suppl2.xls, sheet 4
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Clinical Features and Genomic Characterization of Post-Colonoscopy Colorectal Cancer.

Clinical And Translational Gastroenterology
Tanaka, Hidenori H; Urabe, Yuji Y; Oka, Shiro S; Shimohara, Yasutsugu Y; Nishimura, Tomoyuki T; Inagaki, Katsuaki K; Okamoto, Yuki Y; Matsumoto, Kenta K; Yamashita, Ken K; Sumimoto, Kyoku K; Ninomiya, Yuki Y; Yuge, Ryo R; Tanaka, Shinji S; Chayama, Kazuaki K
Publication Date: 2020-10

Variant appearance in text: JAK2: G13D
PubMed Link: 33031197
Variant Present in the following documents:
  • ct9-11-e00246-s003.xlsx, sheet 1
View BVdb publication page



Clinical responses to PD-1 inhibition and their molecular characterization in six patients with mismatch repair-deficient metastatic cancer of the digestive system.

Journal Of Cancer Research And Clinical Oncology
Hirsch, Daniela D; Gaiser, Timo T; Merx, Kirsten K; Weingaertner, Simone S; Forster, Michael M; Hendricks, Alexander A; Woenckhaus, Matthias M; Schubert, Thomas T; Hofheinz, Ralf-Dieter RD; Gencer, Deniz D
Publication Date: 2021-01

Variant appearance in text: JAK2: G13D
PubMed Link: 32776177
Variant Present in the following documents:
  • Main text
  • 432_2020_Article_3335.pdf
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Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Nature Communications
Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S
Publication Date: 2018-04-19

Variant appearance in text: JAK2: G13D
PubMed Link: 29674644
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_3987.pdf
View BVdb publication page



MLN0128, a novel mTOR kinase inhibitor, disrupts survival signaling and triggers apoptosis in AML and AML stem/ progenitor cells.

Oncotarget
Zeng, Zhihong Z; Wang, Rui-Yu RY; Qiu, Yi Hua YH; Mak, Duncan H DH; Coombes, Kevin K; Yoo, Suk Young SY; Zhang, Qi Q; Jessen, Katti K; Liu, Yi Y; Rommel, Christian C; Fruman, David A DA; Kantarjian, Hagop M HM; Kornblau, Steven M SM; Andreeff, Michael M; Konopleva, Marina M
Publication Date: 2016-08-23

Variant appearance in text: JAK2: G13D
PubMed Link: 27391151
Variant Present in the following documents:
  • oncotarget-07-55083-s001.pdf
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: JAK2: G13D
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Rational combination of MEK inhibitor and the STAT3 pathway modulator for the therapy in K-Ras mutated pancreatic and colon cancer cells.

Oncotarget
Zhao, Chengguang C; Xiao, Hui H; Wu, Xiaojuan X; Li, Chenglong C; Liang, Guang G; Yang, Shulin S; Lin, Jiayuh J
Publication Date: 2015-06-10

Variant appearance in text: JAK2: G13D
PubMed Link: 25961376
Variant Present in the following documents:
  • Main text
  • oncotarget-06-14472.pdf
View BVdb publication page



Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

The Journal Of Investigative Dermatology
Siroy, Alan E AE; Boland, Genevieve M GM; Milton, Denái R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA
Publication Date: 2015-02

Variant appearance in text: JAK2: G13D
PubMed Link: 25148578
Variant Present in the following documents:
  • NIHMS622327-supplement-supplement_1.pdf
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Dual epigenetic targeting with panobinostat and azacitidine in acute myeloid leukemia and high-risk myelodysplastic syndrome.

Blood Cancer Journal
Tan, P P; Wei, A A; Mithraprabhu, S S; Cummings, N N; Liu, H B HB; Perugini, M M; Reed, K K; Avery, S S; Patil, S S; Walker, P P; Mollee, P P; Grigg, A A; D'Andrea, R R; Dear, A A; Spencer, A A
Publication Date: 2014-01-10

Variant appearance in text: JAK2: G13D
PubMed Link: 24413064
Variant Present in the following documents:
  • bcj201368a.pdf
View BVdb publication page



Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

Leukemia
Tenedini, E E; Bernardis, I I; Artusi, V V; Artuso, L L; Roncaglia, E E; Guglielmelli, P P; Pieri, L L; Bogani, C C; Biamonte, F F; Rotunno, G G; Mannarelli, C C; Bianchi, E E; Pancrazzi, A A; Fanelli, T T; Malagoli Tagliazucchi, G G; Ferrari, S S; Manfredini, R R; Vannucchi, A M AM; Tagliafico, E E; ,
Publication Date: 2014-05

Variant appearance in text: JAK2: G13D
PubMed Link: 24150215
Variant Present in the following documents:
  • leu2013302a.pdf
View BVdb publication page



Complexity in the signaling network: insights from the use of targeted inhibitors in cancer therapy.

Genes & Development
Logue, Jeremy S JS; Morrison, Deborah K DK
Publication Date: 2012-04-01

Variant appearance in text: JAK2: G13D
PubMed Link: 22474259
Variant Present in the following documents:
  • Main text
View BVdb publication page



RNAi screen for rapid therapeutic target identification in leukemia patients.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tyner, Jeffrey W JW; Deininger, Michael W MW; Loriaux, Marc M MM; Chang, Bill H BH; Gotlib, Jason R JR; Willis, Stephanie G SG; Erickson, Heidi H; Kovacsovics, Tibor T; O'Hare, Thomas T; Heinrich, Michael C MC; Druker, Brian J BJ
Publication Date: 2009-05-26

Variant appearance in text: JAK2: G13D
PubMed Link: 19433805
Variant Present in the following documents:
  • Main text
View BVdb publication page