Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.T615A
Back to variants list

CSF3R

NM_000760.4:p.T615A

Associated Papers

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

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

Bolarinwa A et al.

Haematologica, 2025

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

CSF3R Mutations Imply Adverse Prognostic Impact in Adult Acute Myeloid Leukemia Patients: A Single-Center Retrospective Study.

Yang J et al.

Cancer Medicine, 2025

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

Research progress of additional pathogenic mutations in chronic neutrophilic leukemia.

Gao J et al.

Annals of Hematology, 2024

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

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

CSF3R-mutant chronic myelomonocytic leukemia is a distinct clinically subset with abysmal prognosis: a case report and systematic review of the literature.

Guastafierro V et al.

Leukemia & Lymphoma, 2023

A novel colony stimulating factor 3 receptor activating mutation identified in a patient with chronic neutrophilic leukemia.

Maniaci BN et al.

Haematologica, 2023

Evolutionary landscape of clonal hematopoiesis in 3,359 individuals from the general population.

van Zeventer IA et al.

Cancer Cell, 2023

Mutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity.

Hollander MJ et al.

The Journal of Biological Chemistry, 2023

Advances in molecular evaluation of myeloproliferative neoplasms.

Li N et al.

Seminars in Diagnostic Pathology, 2023

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

The clinical characteristics and prognosis of Chinese acute myeloid leukemia patients with CSF3R mutations.

Chen X et al.

International Journal of Laboratory Hematology, 2022

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

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

The Interpretation of Sequence Variants in Myeloid Neoplasms.

Hanbazazh M et al.

American Journal of Clinical Pathology, 2021

Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature.

Li YP et al.

World Journal of Clinical Cases, 2020

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S2

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

The clinical mutatome of core binding factor leukemia.

Opatz S et al.

Leukemia, 2020

Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia.

Dao KT et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia.

Spiciarich DR et al.

Cancer Research, 2018

Chronic neutrophilic leukemia: 2018 update on diagnosis, molecular genetics and management.

Elliott MA et al.

American Journal of Hematology, 2018

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

Zhang Y et al.

Cancer, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

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

Gain-of-function mutations in granulocyte colony-stimulating factor receptor (CSF3R) reveal distinct mechanisms of CSF3R activation.

Zhang H et al.

The Journal of Biological Chemistry, 2018

Targeting few to help hundreds: JAK, MAPK and ROCK pathways as druggable targets in atypical chronic myeloid leukemia.

Rocca S et al.

Molecular Cancer, 2018

Chronic neutrophilic leukemia: new science and new diagnostic criteria.

Szuber N et al.

Blood Cancer Journal, 2018

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

Zhang H et al.

Leukemia, 2017

Unpaired Extracellular Cysteine Mutations of CSF3R Mediate Gain or Loss of Function.

Zhang H et al.

Cancer Research, 2017

Genomics of chronic neutrophilic leukemia.

Maxson JE et al.

Blood, 2017

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

Maxson JE et al.

Blood, 2016

Chronic neutrophilic leukemia 2016: Update on diagnosis, molecular genetics, prognosis, and management.

Elliott MA et al.

American Journal of Hematology, 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

Evaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literature.

Wang L et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2015

Targeting phosphatidylinositol-3-kinase pathway for the treatment of Philadelphia-negative myeloproliferative neoplasms.

Pandey R et al.

Molecular Cancer, 2015

1–50 of 58 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."