Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.D620E
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JAK2

NM_004972.4:p.D620E

Associated Papers

Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.

Puli'uvea C et al.

Hematology (amsterdam, Netherlands), 2024

38197452 (PubMed )
Supplement: supplement_1.docx

A newly identified 45-kDa JAK2 variant with an altered kinase domain structure represents a novel mode of JAK2 kinase inhibitor resistance.

Gorantla SP et al.

Molecular Oncology, 2024

Structural Analysis of Janus Tyrosine Kinase Variants in Hematological Malignancies: Implications for Drug Development and Opportunities for Novel Therapeutic Strategies.

Rodriguez Moncivais OJ et al.

International Journal of Molecular Sciences, 2023

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

37629188 (PubMed )
Supplement: ijms-24-13008-s001.zip › ijms-2555672-supplementary.pdf

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

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.

Maslah N et al.

Annals of Hematology, 2019

Development of a high resolution melting analysis assay for rapid identification of JAK2 V617F missense mutation and its validation.

Moradabadi A et al.

Experimental Hematology & Oncology, 2019

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

31681791 (PubMed )
Supplement: Data_Sheet_5.pdf

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Williams HL et al.

Virchows Archiv : an International Journal of Pathology, 2018

30105577 (PubMed )
Supplement: 428_2018_2411_MOESM1_ESM.xlsx › REF4

Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.

Akram AM et al.

Journal of Cancer, 2018

p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Eder-Azanza L et al.

Haematologica, 2017

Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14.

Tiong IS et al.

British Journal of Haematology, 2017

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

Varghese LN et al.

The Biochemical Journal, 2014

A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.

Wu Z et al.

Biomed Research International, 2014

Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.

Gong JZ et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.

Bench AJ et al.

British Journal of Haematology, 2013

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

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Investigation and analysis of single nucleotide polymorphisms in Janus kinase/signal transducer and activator of transcription genes with leukemia.

Zhong Y et al.

Leukemia & Lymphoma, 2012

High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms.

Rapado I et al.

The Journal of Molecular Diagnostics : Jmd, 2009

Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Schnittger S et al.

Haematologica, 2009

JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.

Yoo JH et al.

Cancer Genetics and Cytogenetics, 2009

Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

Tefferi A

Journal of Cellular and Molecular Medicine, 2009

JAKs in pathology: role of Janus kinases in hematopoietic malignancies and immunodeficiencies.

Vainchenker W et al.

Seminars in Cell & Developmental Biology, 2008

[The discovery of JAK2 mutation has changed the diagnostic criteria of myeloproliferative neoplasms].

Zhu P

Zhonghua Yi Xue Za Zhi, 2008

Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders.

Walz C et al.

Leukemia, 2008

The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms.

Smith CA et al.

Human Pathology, 2008

JAK and MPL mutations in myeloid malignancies.

Tefferi A

Leukemia & Lymphoma, 2008

JAK2 mutations other than V617F: a novel mutation and mini review.

Karow A et al.

Leukemia Research, 2008

Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera.

Pardanani A et al.

Leukemia, 2007

TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations.

Pardanani A et al.

Leukemia, 2007

Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E.

Schnittger S et al.

Leukemia, 2006

Detection of a new JAK2 D620E mutation in addition to V617F in a patient with polycythemia vera.

Grünebach F et al.

Leukemia, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."