Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.E635fs
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ASXL1

NM_015338.6:p.E635fs

Associated Papers

Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.

von Scheidt M et al.

European Heart Journal, 2026

40900105 (PubMed )
Supplement: ehaf602_supplementary_data.pdf

Next-generation sequencing from chronic myeloid leukemia dried blood spots: insights and implications for global oncology.

Oehler VG et al.

Leukemia, 2026

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.

Yu H et al.

Leukemia, 2025

Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1.

Naumann N et al.

Scientific Reports, 2025

JAK2 inhibition mediates clonal selection of RAS pathway mutations in myeloproliferative neoplasms.

Maslah N et al.

Nature Communications, 2025

40623967 (PubMed )
Supplement: 41467_2025_60884_MOESM3_ESM.xlsx › Supplementary_Data_1

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.

Hashiba T et al.

Journal of Diabetes Investigation, 2025

Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.

Fei F et al.

Oncotarget, 2025

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc6.xlsx › Sheet1

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 › S10

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 › S7

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Rondoni M et al.

Cancers, 2025

40227798 (PubMed )
Supplement: cancers-17-01213-s001.zip › cancers-3416916-supplementary.pdf

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1

Localized blastic plasmacytoid dendritic cell neoplasm associated with progressive clonal hematopoiesis and myelodysplastic syndrome.

Julin C et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2025

Blastic plasmacytoid dendritic cell neoplasm secondary to acute myeloid leukemia with shared mutations in TET2 and DNMT3A: a case report and literature review.

Sun Y et al.

Frontiers in Immunology, 2025

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Xie Z et al.

Blood, 2024

38996210 (PubMed )
Supplement: BLOOD_BLD-2024-024756-mmc1.pdf

Late-onset NPM1 mutation in a MYC-amplified relapsed/refractory acute myeloid leukemia patient treated with gemtuzumab ozogamicin and glasdegib.

Jaramillo S et al.

Haematologica, 2024

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 › S6

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Blood Advances, 2024

38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Implementation of and Systems-Level Barriers to Guideline-Driven Germline Genetic Evaluation in the Care of Patients With Myelodysplastic Syndrome and Acute Myeloid Leukemia.

Banaszak LG et al.

Jco Precision Oncology, 2024

Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.

Jin P et al.

Cancer Research, 2024

38417135 (PubMed )
Supplement: can-23-2543_supplementary_table_s1-s20_suppst1-20.xlsx › Table20

BRAF Mutations in Patients with Myeloid Neoplasms: A Cancer Center Multigene Next-Generation Sequencing Analysis Experience.

Fei F et al.

International Journal of Molecular Sciences, 2024

Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.

Köhnke T et al.

Blood Cancer Discovery, 2024

38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_tables_1-5_suppst1.xlsx › Supplementary_Table_1

Targeting SRSF2 mutations in leukemia with RKI-1447: A strategy to impair cellular division and nuclear structure.

Su M et al.

Iscience, 2024

38558935 (PubMed )
Supplement: mmc9.xlsx › Molecular_data

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.

Verma T et al.

Cancers, 2024

Cutaneous Manifestations of Myeloid Neoplasms Exhibit Broad and Divergent Morphologic and Immunophenotypic Features but Share Ancestral Clonal Mutations With Bone Marrow.

Sadigh S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

High-sensitivity analysis of clonal hematopoiesis reveals increased clonal complexity of potential-driver mutations in severe COVID-19 patients.

Ronchini C et al.

Plos One, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2017-2279B2.xls › SNVIndel

Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations.

Wang J et al.

Platelets, 2023

Clonal dynamics and copy number variants by single-cell analysis in leukemic evolution of myeloproliferative neoplasms.

Calabresi L et al.

American Journal of Hematology, 2023

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

Presence of Myeloid Mutations in Patients with Chronic Myeloid Leukemia Increases Risk of Cardiovascular Event on Tyrosine Kinase Inhibitor Treatment.

Stuckey R et al.

Cancers, 2023

37444494 (PubMed )
Supplement: cancers-15-03384-s001.zip › cancers-2437181-supplementary.pdf

A reappraisal of ASXL1 mutation sites and the cohesin-binding motif in myeloid disease.

Johnson SM et al.

Blood Cancer Journal, 2023

37365170 (PubMed )
Supplement: 41408_2023_876_MOESM1_ESM.docx

Somatic genetic alterations predict hematological progression in GATA2 deficiency.

Largeaud L et al.

Haematologica, 2023

36727400 (PubMed )
Supplement: 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx › Details

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.

Lin I et al.

Jci Insight, 2023

ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.

Shi Z et al.

Haematologica, 2023

36005555 (PubMed )
Supplement: 2021_280320_SHI_SUPPL.pdf

Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.

Russell BE et al.

American Journal of Medical Genetics. Part A, 2023

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_I.xlsx › All_patients_Erythrocytosis
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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."