JAK2 c.3289G>T ;(p.E1097*)

Variant ID: 9-5126444-G-T

NM_004972.3(JAK2):c.3289G>T;(p.E1097*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: JAK2: E1097*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: 3289G>T; E1097*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Mutation based treatment recommendations from next generation sequencing data: a comparison of web tools.

Oncotarget
Patel, Jaymin M JM; Knopf, Joshua J; Reiner, Eric E; Bossuyt, Veerle V; Epstein, Lianne L; DiGiovanna, Michael M; Chung, Gina G; Silber, Andrea A; Sanft, Tara T; Hofstatter, Erin E; Mougalian, Sarah S; Abu-Khalaf, Maysa M; Platt, James J; Shi, Weiwei W; Gershkovich, Peter P; Hatzis, Christos C; Pusztai, Lajos L
Publication Date: 2016-04-19

Variant appearance in text: JAK2: E1097*
PubMed Link: 26980737
Variant Present in the following documents:
  • oncotarget-07-22064-s001.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: JAK2: E1097*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.

Plos One
Anderson, Nicole M NM; Javadi, Mojib M; Berndl, Elizabeth E; Berberovic, Zorana Z; Bailey, Monica L ML; Huang, Kai K; Flenniken, Ann M AM; Osborne, Lucy R LR; Adamson, S Lee SL; Rossant, Janet J; Carter-Su, Christin C; Wang, Chen C; McNagny, Kelly M KM; Paulson, Robert F RF; Minden, Mark D MD; Stanford, William L WL; Barber, Dwayne L DL
Publication Date: 2013

Variant appearance in text: JAK2: E1097X
PubMed Link: 24086539
Variant Present in the following documents:
  • Main text
  • pone.0075472.pdf
View BVdb publication page