Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.R318W
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DNMT3A

NM_022552.5:p.R318W

Associated Papers

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

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

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

Huang YH et al.

Cancer Discovery, 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

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

The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.

Jour G et al.

The Journal of Pathology. Clinical Research, 2016

27499911 (PubMed )
Supplement: CJP2-2-09-s001.xlsx › Sheet1
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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."