Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.C583Y
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DNMT3A

NM_022552.5:p.C583Y

Associated Papers

Double mutant DNMT3A AML: a unique subtype experiencing increased DNA damage and poor prognosis.

Boertjes EL et al.

Blood Advances, 2025

39693514 (PubMed )
Supplement: BLOODA_ADV-2024-014698-mmc1.pdf

Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.

Huang YH et al.

Cancer Discovery, 2022

34429321 (PubMed )
Supplement: cd-21-0560_supplementary_table_1_suppst1.xlsx › Sheet1

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.

Smith AM et al.

Nature Communications, 2021

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K et al.

Wellcome Open Research, 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."