Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.C618R
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JAK2

NM_004972.4:p.C618R

Associated Papers

A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.

Wang X et al.

Biorxiv : the Preprint Server for Biology, 2025

39763781 (PubMed )
Supplement: media-3.xlsx › ABE_screen_library

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

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

Structural modeling of cytokine-receptor-JAK2 signaling complexes using AlphaFold Multimer.

Pogozheva ID et al.

Biorxiv : the Preprint Server for Biology, 2023

Compound in-cis JAK2 mutant polycythemia vera manifesting as first-onset transient ischemic attack with erythrocytosis and an attenuated JAK2 V617F mutant signal on a quantitative DD-PCR assay.

Ng IKS et al.

International Journal of Laboratory Hematology, 2023

Next-Generation Sequencing Panel Test in Myeloid Neoplasms and Evaluation with the Clinical Results.

Kahraman CY et al.

The Eurasian Journal of Medicine, 2022

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

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

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Geay A et al.

Clinical Case Reports, 2020

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

The Landscape of Actionable Genomic Alterations in Cell-Free Circulating Tumor DNA from 21,807 Advanced Cancer Patients.

Zill OA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

29776953 (PubMed )
Supplement: 10780432ccr173837-sup-194639_3_supp_4727117_p821pw.pdf

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

Effects of the I682F mutation on JAK2's activity, structure and stability.

Li F et al.

International Journal of Biological Macromolecules, 2015

Disruption of E627 and R683 interaction is responsible for B-cell acute lymphoblastic leukemia caused by JAK2 R683G(S) mutations.

Wu QY et al.

Leukemia & Lymphoma, 2013

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

The effects of R683S (G) genetic mutations on the JAK2 activity, structure and stability.

Li F et al.

International Journal of Biological Macromolecules, 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

Amino acid residue E543 in JAK2 C618R is a potential therapeutic target for myeloproliferative disorders caused by JAK2 C618R mutation.

Wu QY et al.

Archives of Biochemistry and Biophysics, 2012

Locked nucleic acid probes for enhanced detection of FLT3 D835/I836, JAK2 V617F and NPM1 mutations.

Warshawsky I et al.

Journal of Clinical Pathology, 2011

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

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Identification of JAK2 mutations in canine primary polycythemia.

Beurlet S et al.

Experimental Hematology, 2011

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

Jatiani SS et al.

Genes & Cancer, 2010

Failure of the Ipsogen MutaScreen kit to detect the JAK2 617V>F mutation in samples with additional rare exon 14 mutations: implications for clinical testing and report of a novel 618C>F mutation in addition to 617V>F.

Warshawsky I et al.

Blood, 2010

Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.

Lee TS et al.

Bmc Structural Biology, 2009

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

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

Walz C et al.

Leukemia, 2008

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

Karow A et al.

Leukemia Research, 2008

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