Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.R670Q
Back to variants list

DNMT3B

NM_006892.4:p.R670Q

Associated Papers

Using human disease mutations to understand de novo DNA methyltransferase function.

Rolls W et al.

Biochemical Society Transactions, 2024

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

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.

Bilgic Eltan S et al.

Journal of Clinical Immunology, 2023

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

Gao L et al.

Nature Communications, 2022

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

van den Boogaard ML et al.

Clinical Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."