Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.P691L
Back to variants list

DNMT3B

NM_006892.4:p.P691L

Associated Papers

Unraveling the Natural History of Good's Syndrome: A Progressive Adult Combined Immunodeficiency.

Kabir A et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2024

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.

Šikrová D et al.

Communications Biology, 2023

37380887 (PubMed )
Supplement: 42003_2023_5053_MOESM2_ESM.pdf

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.

Bouwman LF et al.

Skeletal Muscle, 2020

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML et al.

American Journal of Human Genetics, 2016

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq
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."