Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.A766P
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DNMT3B

NM_006892.4:p.A766P

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

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Weemaes CM et al.

European Journal of Human Genetics : Ejhg, 2013

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

DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1.

Park J et al.

Journal of Molecular Medicine (berlin, Germany), 2008

ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.

Ehrlich M et al.

Autoimmunity, 2008

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

Xie ZH et al.

Human Molecular Genetics, 2006

Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

Ueda Y et al.

Development (cambridge, England), 2006

Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.

Lappalainen I et al.

Protein Engineering, 2002

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

Wijmenga C et al.

Human Mutation, 2000

The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.

Hu H et al.

Autoimmunity, 0

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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."