JAK2 c.1831T>G ;(p.L611V)

Variant ID: 9-5073752-T-G

NM_004972.3(JAK2):c.1831T>G;(p.L611V)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Genes
Maaziz, Nada N; Garrec, Céline C; Airaud, Fabrice F; Bobée, Victor V; Contentin, Nathalie N; Cayssials, Emilie E; Rimbert, Antoine A; Aral, Bernard B; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F
Publication Date: 2023-05-11

Variant appearance in text: JAK2: L611V
PubMed Link: 37239426
Variant Present in the following documents:
  • Main text
  • genes-14-01066.pdf
View BVdb publication page



Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.

Frontiers In Oncology
Li, Xiao-Qing XQ; Liu, Jia-Jun JJ; Liu, Cheng-Cheng CC
Publication Date: 2022

Variant appearance in text: JAK2: L611V
PubMed Link: 36483035
Variant Present in the following documents:
  • Main text
  • fonc-12-937362.pdf
View BVdb publication page



Genetic Background of Polycythemia Vera.

Genes
Regimbeau, Mathilde M; Mary, Romain R; Hermetet, François F; Girodon, François F
Publication Date: 2022-04-02

Variant appearance in text: JAK2: L611V
PubMed Link: 35456443
Variant Present in the following documents:
  • Main text
  • genes-13-00637.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: JAK2: L611V
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: JAK2: 1831T>G; L611V
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Anti-Glucosylsphingosine Autoimmunity, JAK2V617F-Dependent Interleukin-1β and JAK2V617F-Independent Cytokines in Myeloproliferative Neoplasms.

Cancers
Allain-Maillet, Sophie S; Bosseboeuf, Adrien A; Mennesson, Nicolas N; Bostoën, Mégane M; Dufeu, Laura L; Choi, Eun Ho EH; Cleyrat, Cédric C; Mansier, Olivier O; Lippert, Eric E; Le Bris, Yannick Y; Gombert, Jean-Marc JM; Girodon, François F; Pettazzoni, Magali M; Bigot-Corbel, Edith E; Hermouet, Sylvie S
Publication Date: 2020-08-28

Variant appearance in text: JAK2: L611V
PubMed Link: 32872203
Variant Present in the following documents:
  • cancers-12-02446-s001.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: JAK2: L611V
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications
Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE
Publication Date: 2020-01-27

Variant appearance in text: JAK2: L611V
PubMed Link: 31988276
Variant Present in the following documents:
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 9
  • 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM11_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
View BVdb publication page



Germline JAK2 L611S mutation in a child with thrombocytosis.

Haematologica
Aral, Bernard B; Courtois, Martine M; Ragot, Sylviane S; Bourgeois, Valentin V; Bottolier-Lemallaz, Elodie E; Briandet, Claire C; Girodon, François F
Publication Date: 2018-08

Variant appearance in text: JAK2: L611V
PubMed Link: 29567786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation.

Mediators Of Inflammation
Hermouet, Sylvie S; Bigot-Corbel, Edith E; Gardie, Betty B
Publication Date: 2015

Variant appearance in text: JAK2: L611V
PubMed Link: 26538820
Variant Present in the following documents:
  • MI2015-145293.pdf
View BVdb publication page



The Hepatocyte Growth Factor (HGF)/Met Axis: A Neglected Target in the Treatment of Chronic Myeloproliferative Neoplasms?

Cancers
Boissinot, Marjorie M; Vilaine, Mathias M; Hermouet, Sylvie S
Publication Date: 2014-08-12

Variant appearance in text: JAK2: L611V
PubMed Link: 25119536
Variant Present in the following documents:
  • cancers-06-01631.pdf
View BVdb publication page



Mpl traffics to the cell surface through conventional and unconventional routes.

Traffic (Copenhagen, Denmark)
Cleyrat, Cédric C; Darehshouri, Anza A; Steinkamp, Mara P MP; Vilaine, Mathias M; Boassa, Daniela D; Ellisman, Mark H MH; Hermouet, Sylvie S; Wilson, Bridget S BS
Publication Date: 2014-09

Variant appearance in text: JAK2: L611V
PubMed Link: 24931576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL.

Plos One
Li, Bin B; Zhang, Guangsen G; Li, Cui C; He, Dan D; Li, Xinying X; Zhang, Chunfang C; Tang, Faqing F; Deng, Xiyun X; Lu, Jingchen J; Tang, Youhong Y; Li, Ruijuan R; Chen, Zhuchu Z; Duan, Chaojun C
Publication Date: 2012

Variant appearance in text: JAK2: L611V
PubMed Link: 22523564
Variant Present in the following documents:
  • pone.0034912.pdf
View BVdb publication page



Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.

Haematologica
Pietra, Daniela D; Brisci, Angela A; Rumi, Elisa E; Boggi, Sabrina S; Elena, Chiara C; Pietrelli, Alessandro A; Bordoni, Roberta R; Ferrari, Maurizio M; Passamonti, Francesco F; De Bellis, Gianluca G; Cremonesi, Laura L; Cazzola, Mario M
Publication Date: 2011-04

Variant appearance in text: JAK2: L611V
PubMed Link: 21228032
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.

Leukemia
Tefferi, A A
Publication Date: 2010-06

Variant appearance in text: JAK2: L611V
PubMed Link: 20428194
Variant Present in the following documents:
  • leu201069a.pdf
View BVdb publication page