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

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.

Niederkorn M et al.

The Journal of Clinical Investigation, 2026

41542766 (PubMed )
Supplement: jci-136-193636-s047.xlsx › Patient_samples

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Novel NUTM1 Fusions in Relapsed Acute Myeloid Leukemia: Expanding the Genetic and Clinical Landscape.

Tizro P et al.

International Journal of Molecular Sciences, 2025

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

Romero-Moya D et al.

Leukemia, 2025

40954215 (PubMed )
Supplement: 41375_2025_2771_MOESM2_ESM.pdf

[Correlation between ASXL1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodysplastic Syndrome].

Ma JL et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2025

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Splenomegaly in de novo acute myeloid leukemia is associated with ASXL1 mutations together with a distinct clinical and gene expression profile.

Tarantini F et al.

Biomarker Research, 2025

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

Yu H et al.

Leukemia, 2025

Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.

Kageyama S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

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

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

Fei F et al.

Oncotarget, 2025

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia.

Kamizela AE et al.

Nature, 2025

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.

Geng H et al.

Blood Advances, 2025

39536287 (PubMed )
Supplement: BLOODA_ADV-2024-014460-mmc1.pdf

Mutation of Epigenetic Regulators at Diagnosis Is an Independent Predictor of Tyrosine Kinase Inhibitor Treatment Failure in Chronic Myeloid Leukemia: A Report From the RESIDIAG Study.

Guerineau H et al.

American Journal of Hematology, 2025

39654506 (PubMed )
Supplement: supplement_1.pdf

Long survival in a patient with fumarate hydratase mutation-associated glioma.

Reimann RR et al.

Journal of Neuropathology and Experimental Neurology, 2025

A mutant ASXL1-BAP1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia.

Dong Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

A mutant ASXL1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia.

Dong Z et al.

Biorxiv : the Preprint Server for Biology, 2025

Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy.

Tursky ML et al.

Plos One, 2025

Detection of KMT2A Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.

Wei Q et al.

Cancers, 2024

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

Xie Z et al.

Blood, 2024

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

Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia.

Stiff A et al.

Nature Genetics, 2024

39367245 (PubMed )
Supplement: 41588_2024_1929_MOESM1_ESM.pdf

Single-Hit and Multi-hit PIK3CA Short Variant Genomic Alterations in Clinically Advanced Prostate Cancer: A Genomic Landscape Study.

Basin MF et al.

Targeted Oncology, 2024

Clonal hematopoiesis in LGI1-antibody encephalitis.

Shin SJ et al.

Annals of Clinical and Translational Neurology, 2024

39199016 (PubMed )
Supplement: ACN3-11-2785-s001.pdf

ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.

Zhang KY et al.

Acta Neuropathologica, 2024

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

1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.

Halper-Stromberg E et al.

Experimental Hematology & Oncology, 2024

39090734 (PubMed )
Supplement: 40164_2024_541_MOESM1_ESM.pdf

Wilms Tumor: An Unexpected Diagnosis in Adult Patients.

Chan GJ et al.

Archives of Pathology & Laboratory Medicine, 2024

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

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

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

FLT3 and IRAK4 Inhibitor Emavusertib in Combination with BH3-Mimetics in the Treatment of Acute Myeloid Leukemia.

Seipel K et al.

Current Issues in Molecular Biology, 2024

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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."