Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.K299I
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DNMT3A

NM_022552.5:p.K299I

Associated Papers

Prognostic significance of somatic mutations in myeloid cells of men with chronic heart failure - interaction between loss of Y chromosome and clonal haematopoiesis.

Cremer S et al.

European Journal of Heart Failure, 2025

40702883 (PubMed )
Supplement: EJHF-27-3219-s001.zip › Tables_S1_und_S2_final.xlsx › S1

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

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

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Mellid S et al.

Cancers, 2020

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

Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Remacha L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."