Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.Q749*
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CSF3R

NM_000760.4:p.Q749*

Associated Papers

Impact of CSF3R Mutations on Leukemic Transformation in Severe Congenital Neutropenia: A Retrospective Analysis From the Italian Neutropenia Registry.

Pegoraro F et al.

American Journal of Hematology, 2026

Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.

Lu X et al.

Biomedicines, 2026

41595714 (PubMed )
Supplement: biomedicines-14-00180-s001.zip › biomedicines-4047568-supplementary.pdf

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

Bolarinwa A et al.

Haematologica, 2025

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies.

Elbaz Younes I et al.

Cancers, 2025

RUNX1::MIR99AHG Chimera in Acute Myeloid Leukemia.

Andersen K et al.

Genes, Chromosomes & Cancer, 2024

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV

Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management.

Szuber N et al.

American Journal of Hematology, 2024

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

Successful Bone Marrow Transplantation in a Patient with Acute Myeloid Leukemia Developed from Severe Congenital Neutropenia Using Modified Chemotherapy and Conditioning Regimen for Leukemia.

Matsumura R et al.

Hematology Reports, 2024

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.

Kawashima N et al.

Haematologica, 2023

Pure (acute) erythroid leukemia: morphology, immunophenotype, cytogenetics, mutations, treatment details, and survival data among 41 Mayo Clinic cases.

Reichard KK et al.

Blood Cancer Journal, 2022

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF et al.

Journal of Clinical Immunology, 2022

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

Martin ES et al.

American Journal of Hematology, 2021

Absence of FGFR3-TACC3 rearrangement in hematological malignancies with numerical chromosomal alteration.

Banella C et al.

Hematology/oncology and Stem Cell Therapy, 2021

Durable remission with ruxolitinib in a chronic neutrophilic leukemia patient harboring a truncation and membrane proximal CSF3R compound mutation.

Hinze A et al.

Annals of Hematology, 2021

Rare and novel RUNX1 fusions in myeloid neoplasms: A single-institute experience.

Aypar U et al.

Genes, Chromosomes & Cancer, 2021

CSF3R truncation mutations in a patient with B-cell acute lymphoblastic leukemia and a favorable response to chemotherapy plus dasatinib.

Schwartz MS et al.

Leukemia Research Reports, 2020

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

Klimiankou M et al.

Frontiers in Immunology, 2019

CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia.

Zhang Y et al.

Cancer, 2018

Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Rothenberg-Thurley M et al.

Leukemia, 2018

29472724 (PubMed )
Supplement: 41375_2018_34_MOESM2_ESM.xlsx › Supplemental_Table_3

Characterization of the leukemogenic potential of distal cytoplasmic CSF3R truncation and missense mutations.

Zhang H et al.

Leukemia, 2017

28439110 (PubMed )
Supplement: NIHMS867395-supplement-1.docx

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM7_ESM.xlsx › Sup._T4_-_TSCA_rgt

Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.

Xu Y et al.

Oncotarget, 2017

29137279 (PubMed )
Supplement: oncotarget-08-82475-s003.xls › Sheet1

Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia.

Ouyang Y et al.

Oncotarget, 2017

CSF3R mutations have a high degree of overlap with CEBPA mutations in pediatric AML.

Maxson JE et al.

Blood, 2016

Hematopoietic stem cell transplantation in severe congenital neutropenia.

Carlsson G et al.

Pediatric Blood & Cancer, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."