Variant: rs77375493 

    present in Gene: INSL6;JAK2
    present in Chromosome: 9
    Position on Chromosome: 5073770
    Alleles of this Variant: G/A;T

rs77375493 in INSL6;JAK2 gene and Budd-Chiari Syndrome PMID 25698270 2015 Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.

PMID 18600100 2008 Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases.

PMID 16762626 2006 Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.

PMID 19293426 2009 The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.

PMID 23425079 2013 Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study.

PMID 23980667 2014 JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.

rs77375493 in INSL6;JAK2 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs77375493 in INSL6;JAK2 gene and Leukemia, Myelocytic, Acute PMID 24404189 2014 Here we report establishment of a new leukemia cell line, PVTL-1, homozygous for JAK2-V617F from a 73-year-old female patient with acute myeloid leukemia (AML) transformed from MPN.

PMID 22571758 2012 Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).

PMID 23115274 2013 Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG).

PMID 22829971 2012 The synergy translated in vivo in two different AML models, the SET-2 megakaryoblastic AML mouse model carrying a JAK2(V617F) mutation, and the MOLM-13 model of FLT3-ITD-driven AML.

PMID 22422826 2012 Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia.

PMID 20631743 2010 A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications.

PMID 21689158 2011 We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse.

PMID 21120162 2010 The incidence of the JAK2 V617F mutation in each patient group was as follows: 8.3% (1/12), MDS; 22.2% (2/9), MDS/MPN-U; 14.3% (1/7), RARS-T; and 13.3%, (2/15) AML.

PMID 22041374 2011 This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.

PMID 22818858 2013 Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.

PMID 20339092 2010 AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2.

PMID 16247455 2006 None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.

rs77375493 in INSL6;JAK2 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs77375493 in INSL6;JAK2 gene and Myeloproliferative disease PMID 19287384 2009 A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

PMID 15781101 2005 Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.

rs77375493 in INSL6;JAK2 gene and Polycythemia Vera PMID 16603627 2006 Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential.

PMID 15781101 2005 A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.

PMID 15793561 2005 A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

PMID 15858187 2005 A gain-of-function mutation of JAK2 in myeloproliferative disorders.

rs77375493 in INSL6;JAK2 gene and Primary Myelofibrosis PMID 16293597 2006 V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.

PMID 24986690 2014 Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF).

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs77375493 in INSL6;JAK2 gene and Serum total cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs77375493 in INSL6;JAK2 gene and THROMBOCYTHEMIA 3 PMID 16325696 2005 Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

PMID 22397670 2012 Germline JAK2 mutation in a family with hereditary thrombocytosis.