Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.N986S
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ASXL1

NM_015338.6:p.N986S

Associated Papers

Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.

Bazhenova L et al.

Clinical Lung Cancer, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

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

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

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Impact of mutations on pregnancy outcome in patients with myeloproliferative neoplasms.

Maze D et al.

Ejhaem, 2023

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

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

Comparative Mutational Profiling of Hematopoietic Progenitor Cells and Circulating Endothelial Cells (CECs) in Patients with Primary Myelofibrosis.

Farina M et al.

Cells, 2021

Risk factors affect accurate prognosis in ASXL1-mutated acute myeloid leukemia.

Fan Y et al.

Cancer Cell International, 2021

The role of new technologies in myeloproliferative neoplasms: Application of next-generation sequencing in myelofibrosis.

Navrátilová J et al.

International Journal of Laboratory Hematology, 2021

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Vantyghem S et al.

Haematologica, 2021

Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.

Schejbel L et al.

Molecular Diagnosis & Therapy, 2021

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Arindrarto W et al.

Leukemia, 2021

32127641 (PubMed )
Supplement: 41375_2020_762_MOESM1_ESM.pdf

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Montaño A et al.

Journal of Personalized Medicine, 2020

32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf

Myeloid malignancies-related somatic mutations in aging individuals.

Coutinho DF et al.

Molecular Genetics & Genomic Medicine, 2019

31006989 (PubMed )
Supplement: MGG3-7-e683-s002.xlsx › Somatic_mutations

Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target.

Sapienza MR et al.

Haematologica, 2019

30381297 (PubMed )
Supplement: 2018.202093.SAPIENZA_SUPPL.pdf

Prognostic significance of ASXL1 mutation types and allele burden in myelofibrosis.

Tefferi A et al.

Leukemia, 2018

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Urreizti R et al.

Scientific Reports, 2018

29330474 (PubMed )
Supplement: 41598_2017_19109_MOESM1_ESM.pdf

Acute myeloid leukemia in a father and son with a germline mutation of ASXL1.

Seiter K et al.

Biomarker Research, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_TSG

Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations.

Nielsen HM et al.

Scientific Reports, 2017

Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.

Altmüller J et al.

Immunogenetics, 2017

Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation.

Magor GW et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.

Haferlach T et al.

Leukemia, 2014

24220272 (PubMed )
Supplement: leu2013336x2.doc

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

ASXL1 mutations in primary and secondary myelofibrosis.

Ricci C et al.

British Journal of Haematology, 2012

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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."