Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.Q623*
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ASXL1

NM_015338.6:p.Q623*

Associated Papers

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

Clinico-hematopathologic and Genetic Characteristics of Korean Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm: A Retrospective Single-center Cohort Study.

Kim J et al.

Annals of Laboratory Medicine, 2025

41093602 (PubMed )
Supplement: ALM3679_Supple0.xlsx › S6

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

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 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

Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.

Demajo S et al.

Cancer Discovery, 2024

38722595 (PubMed )
Supplement: cd-23-1416_supplementary_table_s3_suppst3.xlsx › Supplemental_table_drivers

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

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.

Pitts HA et al.

International Journal of Molecular Sciences, 2023

37298647 (PubMed )
Supplement: ijms-24-09696-s001.zip › Manuscript_SPINK2_supplementary_tables.xlsx › Table_S14

Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.

Russell BE et al.

American Journal of Medical Genetics. Part A, 2023

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.

Konishi T et al.

Scientific Reports, 2023

36788335 (PubMed )
Supplement: 41598_2023_29794_MOESM2_ESM.xlsx › Supplementary_Table_2

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

Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).

Ayoub MC et al.

Frontiers in Neuroscience, 2023

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Uddin MM et al.

Immunity & Ageing : I & A, 2022

35610705 (PubMed )
Supplement: 12979_2022_278_MOESM2_ESM.xlsx › Table_S2

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

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.

Cuddapah VA et al.

American Journal of Medical Genetics. Part A, 2021

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Zhao W et al.

Frontiers in Pediatrics, 2021

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

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

29988082 (PubMed )
Supplement: NIHMS77608-supplement-Supplementary_Table_2.xlsx › 2.1_DC_ARCH-PD
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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."