Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.S444*
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ASXL1

NM_015338.6:p.S444*

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

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

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt

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

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_16

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Avramović V et al.

Human Genomics, 2021

34906245 (PubMed )
Supplement: 40246_2021_371_MOESM1_ESM.xlsx › S5

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Carlston CM et al.

Human Mutation, 2017

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Xie M et al.

Nature Medicine, 2014

25326804 (PubMed )
Supplement: NIHMS630249-supplement-12.xlsx › RareTruncationVariants
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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."