Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.L611V
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JAK2

NM_004972.4:p.L611V

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

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

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Maaziz N et al.

Genes, 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

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 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

Genomic profiles of Indonesian colorectal cancer patients.

Abdullah M et al.

F1000research, 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

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

Lebecque B et al.

Pediatric Blood & Cancer, 2021

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

Chasing down the triple-negative myeloproliferative neoplasms: Implications for molecular diagnostics.

Langabeer SE

Jak-stat, 2016

Molecular diagnostics of myeloproliferative neoplasms.

Langabeer SE et al.

European Journal of Haematology, 2015

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

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

Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.

Pietra D et al.

Haematologica, 2011

JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5.

Cleyrat C et al.

Leukemia, 2010

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