Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.R823G
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DNMT3B

NM_006892.4:p.R823G

Associated Papers

Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.

Cho CC et al.

Protein Science : a Publication of the Protein Society, 2024

Structure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations.

Gao L et al.

Nature Communications, 2022

Structural insights into CpG-specific DNA methylation by human DNA methyltransferase 3B.

Lin CC et al.

Nucleic Acids Research, 2020

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

van den Boogaard ML et al.

Clinical Genetics, 2017

Inactive DNMT3B splice variants modulate de novo DNA methylation.

Gordon CA et al.

Plos One, 2013

Mutations in epigenetic regulators in myelodysplastic syndromes.

Nikoloski G et al.

International Journal of Hematology, 2012

ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation.

Moarefi AH et al.

Journal of Molecular Biology, 2011

Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.

Xie ZH et al.

Human Molecular Genetics, 2006

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

Ehrlich M et al.

Human Molecular Genetics, 2001

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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."