Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G646fs
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ASXL1

NM_015338.6:p.G646fs

Associated Papers

Unleashed condensation by recurrent mutations of an epigenetic regulator promotes cancer.

Song Y et al.

Biorxiv : the Preprint Server for Biology, 2026

Quantification of plasma mutant calreticulin for diagnosis and therapeutic response assessment of peginterferon-α in myeloproliferative neoplasms: A proof-of-concept study.

Tian J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.

Stein CM et al.

Leukemia, 2026

41419602 (PubMed )
Supplement: 41375_2025_2823_MOESM1_ESM.docx

Dual targeting of SLC25A51 and succinate dehydrogenase selectively depletes mitochondrial NAD+ to eradicate KRAS-driven AML.

Jia A et al.

Cell Metabolism, 2026

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

Oncogenic activation of EVC/EVC2 defines a therapeutically targetable subset of acute myeloid leukemia.

Sui P et al.

Leukemia, 2026

Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome sequencing.

Truger M et al.

Leukemia, 2026

41419605 (PubMed )
Supplement: 41375_2025_2820_MOESM1_ESM.xlsx › Case_5

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 exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1

CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.

Romero-Moya D et al.

Leukemia, 2025

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

Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.

Pera J et al.

Nature Communications, 2025

Palisaded Neutrophilic and Granulomatous Dermatitis Associated With ASXL1 -Mutated Chronic Myelomonocytic Leukemia: A Case Report and Literature Review.

Elsharawi I et al.

The American Journal of Dermatopathology, 2025

Mixed Erdheim-Chester disease with thoraco-abdominal involvement.

Saliba T et al.

Acta Radiologica Open, 2025

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

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

Yu H et al.

Leukemia, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Detection of minimal residual disease in circulating cell-free DNA in acute myeloid leukemia.

Sommer C et al.

Scientific Reports, 2025

40987801 (PubMed )
Supplement: 41598_2025_20589_MOESM1_ESM.pdf

Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.

O'Reilly RL et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Impact of clonal hematopoiesis on cardiovascular outcomes in cancer patients of the UK Biobank.

Sun M et al.

Esmo Open, 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-1.pdf

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

Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.

Ganesan A et al.

Scientific Reports, 2025

40595931 (PubMed )
Supplement: 41598_2025_4827_MOESM3_ESM.xlsx › Patient__7

Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.

Krizkova J et al.

Leukemia, 2025

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

Fei F et al.

Oncotarget, 2025

Progressive eosinophilia and STAT5B mutation acquisition in AML treated with azacitidine and venetoclax.

Demers A et al.

Leukemia & Lymphoma, 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

U2af1 S34F and U2af1 Q157R myeloid neoplasm-associated hotspot mutations induce distinct hematopoietic phenotypes in mice.

Alberti MO et al.

Research Square, 2025

Molecular response with asciminib 20 mg QD in a patient intolerant to multiple TKIs.

Stuckey R et al.

Annals of Hematology, 2025

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

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

Inferred clonal hematopoiesis from tumor DNA sequencing among men with prostate cancer: correlation with somatic tumor alterations and outcomes.

Iranmanesh Y et al.

The Oncologist, 2025

40260993 (PubMed )
Supplement: oyaf049_suppl_supplementary_tables_1.xlsx › Sheet1

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

Targeting WDR5/ATAD2 signaling by the CK2/IKAROS axis demonstrates therapeutic efficacy in T-ALL.

Han Q et al.

Blood, 2025

39785511 (PubMed )
Supplement: BLOOD_BLD-2024-024130-mmc1.pdf

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Mosnier C et al.

Blood Advances, 2025

39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report.

Vendemini F et al.

Journal of Clinical Immunology, 2025

Clonal hematopoiesis in patients with autoimmune thrombocytopenia: an international multicenter study.

Fattizzo B et al.

Blood Advances, 2025

39536292 (PubMed )
Supplement: BLOODA_ADV-2024-014984-mmc1.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

RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.

Kong T et al.

Nature Communications, 2025

39820365 (PubMed )
Supplement: 41467_2024_55643_MOESM3_ESM.xlsx › WashU_Cohort_RNAseq

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

Elbaz Younes I et al.

Cancers, 2025

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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."