JAK2 c.2048G>A ;(p.R683K)

Variant ID: 9-5078361-G-A

NM_004972.3(JAK2):c.2048G>A;(p.R683K)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


JAK2 Alterations in Acute Lymphoblastic Leukemia: Molecular Insights for Superior Precision Medicine Strategies.

Frontiers In Cell And Developmental Biology
Downes, Charlotte Ej CE; McClure, Barbara J BJ; McDougal, Daniel P DP; Heatley, Susan L SL; Bruning, John B JB; Thomas, Daniel D; Yeung, David T DT; White, Deborah L DL
Publication Date: 2022

Variant appearance in text: JAK2: R683K
PubMed Link: 35903543
Variant Present in the following documents:
  • Main text
  • fcell-10-942053.pdf
View BVdb publication page



Suspicions regarding the genetic inheritance of acute lymphoblastic leukemia in patients with down syndrome.

Journal Of Mother And Child
Behluli, Emir E; Nuhii, Nexhibe N; Liehr, Thomas T; Temaj, Gazmend G
Publication Date: 2022-07-20

Variant appearance in text: JAK2: R683K
PubMed Link: 35853737
Variant Present in the following documents:
  • Main text
  • jmotherandchild-26-1-jmotherandchild.20222601.d-22-00002.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: R683K
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: R683K
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Dysregulation of BCL-2 family proteins by leukemia fusion genes.

The Journal Of Biological Chemistry
Brown, Lauren M LM; Hanna, Diane T DT; Khaw, Seong L SL; Ekert, Paul G PG
Publication Date: 2017-09-01

Variant appearance in text: JAK2: R683K
PubMed Link: 28717011
Variant Present in the following documents:
  • Main text
View BVdb publication page



The promise of Janus kinase inhibitors in the treatment of hematological malignancies.

Cytokine
Senkevitch, Emilee E; Durum, Scott S
Publication Date: 2017-10

Variant appearance in text: JAK2: R683K
PubMed Link: 28277287
Variant Present in the following documents:
  • Main text
View BVdb publication page



The biology, pathogenesis and clinical aspects of acute lymphoblastic leukemia in children with Down syndrome.

Leukemia
Lee, P P; Bhansali, R R; Izraeli, S S; Hijiya, N N; Crispino, J D JD
Publication Date: 2016-09

Variant appearance in text: JAK2: R683K
PubMed Link: 27285583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.

The Biochemical Journal
Varghese, Leila N LN; Ungureanu, Daniela D; Liau, Nicholas P D NP; Young, Samuel N SN; Laktyushin, Artem A; Hammaren, Henrik H; Lucet, Isabelle S IS; Nicola, Nicos A NA; Silvennoinen, Olli O; Babon, Jeffrey J JJ; Murphy, James M JM
Publication Date: 2014-03-01

Variant appearance in text: JAK2: 2048G>A; R683K
PubMed Link: 24354892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: JAK2: R683K
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
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: R683K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.

Blood
Malinge, Sébastien S; Izraeli, Shai S; Crispino, John D JD
Publication Date: 2009-03-19

Variant appearance in text: JAK2: R683K
PubMed Link: 19139078
Variant Present in the following documents:
  • Main text
View BVdb publication page