Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G645fs
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ASXL1

NM_015338.6:p.G645fs

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

Epidemiological survey of potential familial myelodysplastic syndromes/acute myeloid leukemia in Hawaii.

Takaoka K et al.

International Journal of Hematology, 2026

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

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

Yu H et al.

Leukemia, 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

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

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2b_-_BCAC

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

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

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Biorxiv : the Preprint Server for Biology, 2024

39091884 (PubMed )
Supplement: media-6.xlsx › Data_Points

Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives.

Krishnamurthy K et al.

American Journal of Clinical Pathology, 2024

Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel.

Orsmark-Pietras C et al.

Genes, Chromosomes & Cancer, 2024

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

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

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

Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms.

Calvete O et al.

Biomedicines, 2023

Frequency and prognostic influence of ASXL1 mutations and its potential association with BCR-ABL1 transcript type and smoke in chronic myeloid leukemia patients.

Rafiq Mohammed A et al.

Gene, 2023

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

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

Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer.

Wong K et al.

Genome Biology, 2023

37635261 (PubMed )
Supplement: 13059_2023_3026_MOESM4_ESM.xlsx › Table_S3

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

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

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

Genomic Progression of Precancerous Actinic Keratosis to Squamous Cell Carcinoma.

Kim YS et al.

The Journal of Investigative Dermatology, 2022

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1

Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.

Leung SOA et al.

The Oncologist, 2021

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Hierarchical distribution of somatic variants in newly diagnosed chronic myeloid leukaemia at diagnosis and early follow-up.

Romzova M et al.

British Journal of Haematology, 2021

Induced Pluripotent Stem Cells Enable Disease Modeling and Drug Screening in Calreticulin del52 and ins5 Myeloproliferative Neoplasms.

Secardin L et al.

Hemasphere, 2021

34131633 (PubMed )
Supplement: hs9-5-e593-s001.pdf

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.

Rosenthal SH et al.

Plos One, 2021

33909614 (PubMed )
Supplement: pone.0243683.s005.xlsx › S5A

Molecular Genetics in the Diagnosis and Biology of Lymphoid Neoplasms.

Lim MS et al.

American Journal of Clinical Pathology, 2019

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Urreizti R et al.

Clinical Case Reports, 2018

EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

Bogusz AM

Case Reports in Hematology, 2017

Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

Sakai E et al.

International Journal of Cancer, 2016

26510091 (PubMed )
Supplement: IJC-138-1634-s001.pdf

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

Pellagatti A et al.

Leukemia, 2016

25991409 (PubMed )
Supplement: leu2015129x2.xls › Sheet1
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