Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.L611S
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JAK2

NM_004972.4:p.L611S

Associated Papers

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.

Tønne Nesse AS et al.

Expert Review of Hematology, 2025

Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.

Fitzpatrick MJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2V617F variant allelic fraction in a real-world cohort.

Lebecque B et al.

Annals of Hematology, 2025

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

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.11

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

Detection of a rare JAK2exon13InDel-mutation in chronic eosinophilic leukemia with bilateral cerebral infarctions and Löffler endocarditis.

Eisenach S et al.

Annals of Hematology, 2024

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.

Hogg G et al.

Cancer Genetics, 2023

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

Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.

Krizsán S et al.

The Journal of Molecular Diagnostics : Jmd, 2023

37088137 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_S4

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D et al.

Blood, 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

Novel JAK2 Exon 14 Mutations L611S or N622Y in cis with JAK2V617F Are Associated with Distinct Clinical Phenotype of Polycythemia Vera and Concurrent Eosinophilia.

Patel A et al.

Acta Haematologica, 2023

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

A Rare Co-Occurrence of Triple Mutations in JAK2, CALR, and MPL in the Same Patient with Myelofibrosis.

Thomas SJ et al.

Case Reports in Hematology, 2022

Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.

Li XQ et al.

Frontiers in Oncology, 2022

Double L611S/V617F JAK2 mutation in a child with erythrocytosis.

Lebecque B et al.

Pediatric Blood & Cancer, 2021

JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F- MPNs.

Pastore F et al.

Blood Advances, 2020

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

Bellanné-Chantelot C et al.

Blood Reviews, 2020

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

Germline JAK2 L611S mutation in a child with thrombocytosis.

Aral B et al.

Haematologica, 2018

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

Tiong IS et al.

British Journal of Haematology, 2017

Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Vesely C et al.

Leukemia, 2017

27899802 (PubMed )
Supplement: leu2016365x1.docx

Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.

Li Q et al.

Oncotarget, 2017

CRLF2-Positive B-Cell Acute Lymphoblastic Leukemia in Adult Patients: A Single-Institution Experience.

Konoplev S et al.

American Journal of Clinical Pathology, 2017

Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase.

Hubbard SR

Frontiers in Endocrinology, 2017

Somatic JAK2 mutations and their tumor phenotypes.

Tefferi A

Blood, 2016

Molecular insights into regulation of JAK2 in myeloproliferative neoplasms.

Silvennoinen O et al.

Blood, 2015

Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitors.

Springuel L et al.

Blood, 2014

The molecular regulation of Janus kinase (JAK) activation.

Babon JJ et al.

The Biochemical Journal, 2014

Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase.

Shan Y et al.

Nature Structural & Molecular Biology, 2014

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

Chronic lymphocytic leukemia presenting as an intracranial epidural mass in a patient with myeloproliferative neoplasm associated with JAK2 V617F mutation.

Chan KL et al.

Leukemia & Lymphoma, 2013

Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera.

Nussenzveig RH et al.

Leukemia & Lymphoma, 2012

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

Association of Janus kinase 2 (JAK2) polymorphisms with acute leukemia susceptibility.

Zhong Y et al.

International Journal of Laboratory Hematology, 2012

A Novel Homozygous Nucleotide Deletion in the JAK2 Gene in a Pediatric Patient with B-cell Precursor Acute Lymphoblastic Leukemia.

Akın DF et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012

JAK2 inhibition for the treatment of hematologic and solid malignancies.

Harry BL et al.

Expert Opinion on Investigational Drugs, 2012

STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant.

Funakoshi-Tago M et al.

The Journal of Biological Chemistry, 2010

A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

Zhao L et al.

The Journal of Biological Chemistry, 2009

SOCS-mediated downregulation of mutant Jak2 (V617F, T875N and K539L) counteracts cytokine-independent signaling.

Haan S et al.

Oncogene, 2009

The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice.

Funakoshi-Tago M et al.

The Journal of Biological Chemistry, 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

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

Vainchenker W et al.

Seminars in Cell & Developmental Biology, 2008

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