JAK2 c.1614C>G ;(p.H538Q)

Variant ID: 9-5070025-C-G

NM_004972.3(JAK2):c.1614C>G;(p.H538Q)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: JAK2: H538Q
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: H538Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: JAK2: 1614C>G; H538Q
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: JAK2: 1614C>G; H538Q
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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: H538Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Myeloproliferative neoplasms and the JAK/STAT signaling pathway: an overview.

Revista Brasileira De Hematologia E Hemoterapia
de Freitas, Renata Mendes RM; da Costa Maranduba, Carlos Magno CM
Publication Date: 2015

Variant appearance in text: JAK2: H538Q
PubMed Link: 26408371
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Discovery and characterization of LY2784544, a small-molecule tyrosine kinase inhibitor of JAK2V617F.

Blood Cancer Journal
Ma, L L; Clayton, J R JR; Walgren, R A RA; Zhao, B B; Evans, R J RJ; Smith, M C MC; Heinz-Taheny, K M KM; Kreklau, E L EL; Bloem, L L; Pitou, C C; Shen, W W; Strelow, J M JM; Halstead, C C; Rempala, M E ME; Parthasarathy, S S; Gillig, J R JR; Heinz, L J LJ; Pei, H H; Wang, Y Y; Stancato, L F LF; Dowless, M S MS; Iversen, P W PW; Burkholder, T P TP
Publication Date: 2013-04-12

Variant appearance in text: JAK2: H538Q
PubMed Link: 23584399
Variant Present in the following documents:
  • Main text
  • bcj20136a.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: JAK2: H538Q
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations--clinical relevance in the monitoring of polycythemia.

The Journal Of Molecular Diagnostics : Jmd
Carillo, Serge S; Henry, Laurent L; Lippert, Eric E; Girodon, François F; Guiraud, Isabelle I; Richard, Céline C; Dubois Galopin, Frédérique F; Cleyrat, Cedric C; Jourdan, Eric E; Kralovics, Robert R; Hermouet, Sylvie S; Lavabre-Bertrand, Thierry T
Publication Date: 2011-05

Variant appearance in text: JAK2: H538Q
PubMed Link: 21497288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.

Genes & Cancer
Jatiani, Shashidhar S SS; Baker, Stacey J SJ; Silverman, Lewis R LR; Reddy, E Premkumar EP
Publication Date: 2010-10

Variant appearance in text: JAK2: H538Q
PubMed Link: 21442038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.

Plos One
Ugo, Valerie V; Tondeur, Sylvie S; Menot, Marie-Laurence ML; Bonnin, Nadine N; Le Gac, Gerald G; Tonetti, Carole C; Mansat-De Mas, Veronique V; Lecucq, Lydie L; Kiladjian, Jean-Jacques JJ; Chomienne, Christine C; Dosquet, Christine C; Parquet, Nathalie N; Darnige, Luc L; Porneuf, Marc M; Escoffre-Barbe, Martine M; Giraudier, Stephane S; Delabesse, Eric E; Cassinat, Bruno B; ,
Publication Date: 2010-01-26

Variant appearance in text: JAK2: H538Q
PubMed Link: 20126644
Variant Present in the following documents:
  • Main text
  • pone.0008893.pdf
View BVdb publication page



Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias.

The Journal Of Molecular Diagnostics : Jmd
Ma, Wanlong W; Kantarjian, Hagop H; Zhang, Xi X; Yeh, Chen-Hsiung CH; Zhang, Zhong J ZJ; Verstovsek, Srdan S; Albitar, Maher M
Publication Date: 2009-01

Variant appearance in text: JAK2: H538Q
PubMed Link: 19074595
Variant Present in the following documents:
  • Main text
View BVdb publication page