Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G710*
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ASXL1

NM_015338.6:p.G710*

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

RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.

Kong T et al.

Nature Communications, 2025

39820365 (PubMed )
Supplement: 41467_2024_55643_MOESM3_ESM.xlsx › WashU_Cohort_RNAseq

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine.

Rahmani NE et al.

Blood Cancer Journal, 2021

Genetic modification of primary human B cells to model high-grade lymphoma.

Caeser R et al.

Nature Communications, 2019

31586074 (PubMed )
Supplement: 41467_2019_12494_MOESM6_ESM.xlsx › Merged_Variants_MUT_CAV

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

ASXL1 mutation correction by CRISPR/Cas9 restores gene function in leukemia cells and increases survival in mouse xenografts.

Valletta S et al.

Oncotarget, 2015

Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.

Katoh M

Expert Review of Proteomics, 2015

Comprehensive Molecular Profiling of Archival Bone Marrow Trephines Using a Commercially Available Leukemia Panel and Semiconductor-Based Targeted Resequencing.

Bartels S et al.

Plos One, 2015

Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations.

Inoue D et al.

The Journal of Clinical Investigation, 2013

ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression.

Abdel-Wahab O et al.

Cancer Cell, 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."