Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.D333N
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DNMT3A

NM_022552.5:p.D333N

Associated Papers

Structural insight into hierarchical DNMT3A autoinhibition and its dysregulation in disease.

Lu J et al.

Nature Communications, 2026

Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders.

Wheeler MES et al.

Epigenetics & Chromatin, 2025

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

German RJ et al.

American Journal of Medical Genetics. Part A, 2025

The N-terminal region of DNMT3A engages the nucleosome surface to aid chromatin recruitment.

Wapenaar H et al.

Embo Reports, 2024

Cancer-associated DNA hypermethylation of Polycomb targets requires DNMT3A dual recognition of histone H2AK119 ubiquitination and the nucleosome acidic patch.

Gretarsson KH et al.

Science Advances, 2024

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

Bostanova F et al.

Clinics and Practice, 2024

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn-Sproul-Jackson syndrome.

Kim GH et al.

Frontiers in Pediatrics, 2023

Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.

Backwell L et al.

Annual Review of Genomics and Human Genetics, 2022

Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islands.

Weinberg DN et al.

Nature Genetics, 2021

The DNMT3A PWWP domain is essential for the normal DNA methylation landscape in mouse somatic cells and oocytes.

Kibe K et al.

Plos Genetics, 2021

Alterations to DNMT3A in Hematologic Malignancies.

Venugopal K et al.

Cancer Research, 2021

H3K36me2/3 Binding and DNA Binding of the DNA Methyltransferase DNMT3A PWWP Domain Both Contribute to its Chromatin Interaction.

Dukatz M et al.

Journal of Molecular Biology, 2019

Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases.

Norvil AB et al.

Genes, 2019

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Heyn P et al.

Nature Genetics, 2019

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix
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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."