Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.E808K
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CSF3R

NM_000760.4:p.E808K

Associated Papers

CSF3R mutations and variants in myeloid neoplasms: associated phenotypes, co-mutations, and survival trends.

Bolarinwa A et al.

Haematologica, 2025

Clonal megakaryocyte dysplasia with normal blood values: a covert, thrombosis-prone, early myeloproliferative neoplasm.

Barosi G et al.

Haematologica, 2025

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s004.pdf

Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia.

Maffei R et al.

Annals of Hematology, 2025

Non-canonical FLT3 alterations reveal novel germline FLT3 variants leading to somatic gene rescue mutations.

Gordon J et al.

Blood Cancer Journal, 2024

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms.

Bochicchio MT et al.

International Journal of Molecular Sciences, 2023

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease's phenotype.

Sobieralski P et al.

Frontiers in Oncology, 2023

37671053 (PubMed )
Supplement: Table_1.xlsx › ST1

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

35626091 (PubMed )
Supplement: cancers-14-02487-s001.zip › cancers-1690546-supplementary.pdf

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Anwar N et al.

Bmc Genomics, 2021

34915860 (PubMed )
Supplement: 12864_2021_8221_MOESM2_ESM.xlsx › Sheet1

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.

Trottier AM et al.

Blood Advances, 2020

Reassessing the role of high dose cytarabine and mitoxantrone in relapsed/refractory acute myeloid leukemia.

Canaani J et al.

Oncotarget, 2020

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I et al.

Cold Spring Harbor Molecular Case Studies, 2020

32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia.

Klimiankou M et al.

Frontiers in Immunology, 2019

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes.

Mangaonkar AA et al.

Mayo Clinic Proceedings, 2018

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation.

Magor GW et al.

The Journal of Molecular Diagnostics : Jmd, 2016

The Colony-Stimulating Factor 3 Receptor T640N Mutation Is Oncogenic, Sensitive to JAK Inhibition, and Mimics T618I.

Maxson JE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms.

Tefferi A et al.

Leukemia, 2014

Granulocyte colony-stimulating factor receptor mutations in myeloid malignancy.

Liongue C et al.

Frontiers in Oncology, 2014

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