Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.R771L
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DNMT3A

NM_022552.5:p.R771L

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

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.

Zagaria A et al.

Experimental Hematology & Oncology, 2022

36031623 (PubMed )
Supplement: 40164_2022_301_MOESM3_ESM.xlsx › Foglio1

AML-Associated Mutations in DNA Methyltransferase DNMT3A.

Khrabrova DA et al.

Biochemistry. Biokhimiia, 2021

Erythrocytosis with JAK2 GGCC_46/1 haplotype and without JAK2 V617F mutation is associated with CALR rs1049481_G allele.

Anelli L et al.

Leukemia, 2021

Functional Analysis of DNMT3A DNA Methyltransferase Mutations Reported in Patients with Acute Myeloid Leukemia.

Khrabrova DA et al.

Biomolecules, 2019

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K et al.

Nature Genetics, 2014

24614070 (PubMed )
Supplement: NIHMS57002-supplement-1.pdf

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

Mutations in DNA methyltransferase (DNMT3A) observed in acute myeloid leukemia patients disrupt processive methylation.

Holz-Schietinger C et al.

The Journal of Biological Chemistry, 2012

Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.

Walter MJ et al.

Leukemia, 2011

Mutations galore in myeloproliferative neoplasms: would the real Spartacus please stand up?

Tefferi A

Leukemia, 2011

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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."