JAK2 c.1597A>G ;(p.N533D)

Variant ID: 9-5070008-A-G

NM_004972.3(JAK2):c.1597A>G;(p.N533D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: JAK2: N533D
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Leukemia
Kaisrlikova, Monika M; Vesela, Jitka J; Kundrat, David D; Votavova, Hana H; Dostalova Merkerova, Michaela M; Krejcik, Zdenek Z; Divoky, Vladimir V; Jedlicka, Marek M; Fric, Jan J; Klema, Jiri J; Mikulenkova, Dana D; Stastna Markova, Marketa M; Lauermannova, Marie M; Mertova, Jolana J; Soukupova Maaloufova, Jacqueline J; Jonasova, Anna A; Cermak, Jaroslav J; Belickova, Monika M
Publication Date: 2022-07

Variant appearance in text: JAK2: 1597A>G; Asn533Asp
PubMed Link: 35505182
Variant Present in the following documents:
  • 41375_2022_1584_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Blast cells surviving acute myeloid leukemia induction therapy are in cycle with a signature of FOXM1 activity.

Bmc Cancer
Williams, Mark S MS; Basma, Naseer J NJ; Amaral, Fabio M R FMR; Wiseman, Daniel H DH; Somervaille, Tim C P TCP
Publication Date: 2021-10-28

Variant appearance in text: JAK2: N533D
PubMed Link: 34711181
Variant Present in the following documents:
  • 12885_2021_8839_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: JAK2: 1597A>G; N533D
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: N533D
PubMed Link: 25023898
Variant Present in the following documents:
  • Main text
  • s13045-014-0048-6.pdf
View BVdb publication page