Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.Q925*
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ASXL1

NM_015338.6:p.Q925*

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

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

Impact of cancer therapy on clonal hematopoiesis mutations and subsequent clinical outcomes.

Nead KT et al.

Blood Advances, 2024

38830141 (PubMed )
Supplement: BLOODA_ADV-2024-012929-mmc1.xlsx › STable_2

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

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

Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.

Robertson NA et al.

Nature Medicine, 2022

35788175 (PubMed )
Supplement: 41591_2022_1883_MOESM3_ESM.xlsx › SuppTable_2_-_2_VAF_Events

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

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

A de novo truncating mutation in ASXL1 associated with segmental overgrowth.

Efthymiou S et al.

Journal of Genetics, 2019

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

Urreizti R et al.

Clinical Case Reports, 2018

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

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Hoischen A et al.

Nature Genetics, 2011

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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."