Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.S270P
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DNMT3B

NM_006892.4:p.S270P

Associated Papers

DNMT3B PWWP mutations cause hypermethylation of heterochromatin.

Taglini F et al.

Embo Reports, 2024

Structural basis for the allosteric regulation and dynamic assembly of DNMT3B.

Lu J et al.

Nucleic Acids Research, 2023

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.

Velasco G et al.

International Journal of Molecular Sciences, 2021

33916664 (PubMed )
Supplement: ijms-22-03735-s001.zip › Velasco_Supplementary_Figures_S1_to_S11_R1.pdf

DNMT3B shapes the mCA landscape and regulates mCG for promoter bivalency in human embryonic stem cells.

Tan HK et al.

Nucleic Acids Research, 2019

Understanding histone H3 lysine 36 methylation and its deregulation in disease.

Li J et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

Structural basis for recognition of histone H3K36me3 nucleosome by human de novo DNA methyltransferases 3A and 3B.

Rondelet G et al.

Journal of Structural Biology, 2016

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

Weemaes CM et al.

European Journal of Human Genetics : Ejhg, 2013

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

Park J et al.

Journal of Molecular Medicine (berlin, Germany), 2008

Characterization of Dnmt3b:thymine-DNA glycosylase interaction and stimulation of thymine glycosylase-mediated repair by DNA methyltransferase(s) and RNA.

Boland MJ et al.

Journal of Molecular Biology, 2008

Zinc-fingers and homeoboxes 1 (ZHX1) binds DNA methyltransferase (DNMT) 3B to enhance DNMT3B-mediated transcriptional repression.

Kim SH et al.

Biochemical and Biophysical Research Communications, 2007

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

Xie ZH et al.

Human Molecular Genetics, 2006

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."