Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.C616Y
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JAK2

NM_004972.4:p.C616Y

Associated Papers

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

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

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

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

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

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

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

Consistent up-regulation of Stat3 Independently of Jak2 mutations in a new murine model of essential thrombocythemia.

Senyuk V et al.

Cancer Research, 2009

[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

[The investigation of JAK2 V617F point mutation in myeloproliferative disorders by allele-specific polymerase chain reaction in combination with sequence analysis].

Zhang SJ et al.

Zhonghua Yi Xue Za Zhi, 2007

The investigation of JAK2 mutation in Chinese myeloproliferative diseases-identification of a novel C616Y point mutation in a PV patient.

Zhang SJ et al.

International Journal of Laboratory Hematology, 2007

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