Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.Q592*
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ASXL1

NM_015338.6:p.Q592*

Associated Papers

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

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S4_Table

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › CH_cohort

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 › S3

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

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_4

A high proportion of germline variants in pediatric chronic myeloid leukemia.

Krumbholz M et al.

Molecular Cancer, 2024

39327604 (PubMed )
Supplement: 12943_2024_2109_MOESM2_ESM.xlsx › Suppl_Table_6

CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia.

Mohamed A et al.

Human Pathology, 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

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S et al.

British Journal of Haematology, 2024

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.

Carreño-Tarragona G et al.

Blood Advances, 2023

36375042 (PubMed )
Supplement: BLOODA_ADV-2022-008204-mmc1.pdf

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Myelodysplastic syndromes are multiclonal diseases derived from hematopoietic stem and progenitor cells.

Luo B et al.

Experimental Hematology & Oncology, 2022

35578364 (PubMed )
Supplement: 40164_2022_280_MOESM1_ESM.docx

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.

Togami K et al.

Cancer Discovery, 2022

34615655 (PubMed )
Supplement: cd-20-1513_supplementary_tables_suppst1.xlsx › Supplementary_Table_1

Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Kiefer KC et al.

Esc Heart Failure, 2021

33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1

Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.

Psaila B et al.

Molecular Cell, 2020

32386542 (PubMed )
Supplement: mmc2.xlsx › ST2-clinical-10x

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Pinese M et al.

Nature Communications, 2020

31974348 (PubMed )
Supplement: 41467_2019_14079_MOESM4_ESM.xlsx › Somatic

SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Li J et al.

Frontiers in Genetics, 2020

32849799 (PubMed )
Supplement: Presentation_1.pdf

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Clonal hematopoiesis and risk of acute myeloid leukemia.

Young AL et al.

Haematologica, 2019

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes.

Follo MY et al.

Leukemia, 2019

Spectrum of ASXL1 mutations in primary myelofibrosis: prognostic impact of the ASXL1 p.G646Wfs*12 mutation.

Rotunno G et al.

Blood, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s5.xlsx › FP_Mutations

Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.

Kanagal-Shamanna R et al.

Oncotarget, 2016

26883102 (PubMed )
Supplement: oncotarget-07-14251-s001.pdf

Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.

Brecqueville M et al.

Genes, Chromosomes & Cancer, 2012

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

Gelsi-Boyer V et al.

Journal of Hematology & Oncology, 2012

Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value.

Pratcorona M et al.

Haematologica, 2012

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