Varaico: Literature-Extracted Genetic Variants

Gene:UHRF1
Variant:p.D142A
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UHRF1

NM_001048201.3:p.D142A

Associated Papers

RepEnTools: an automated repeat enrichment analysis package for ChIP-seq data reveals hUHRF1 Tandem-Tudor domain enrichment in young repeats.

Choudalakis M et al.

Mobile Dna, 2024

Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.

Unoki M et al.

Human Molecular Genetics, 2023

Molecular basis of hUHRF1 allosteric activation for synergistic histone modification binding by PI5P.

Mandal P et al.

Science Advances, 2022

Structure of the UHRF1 Tandem Tudor Domain Bound to a Methylated Non-histone Protein, LIG1, Reveals Rules for Binding and Regulation.

Kori S et al.

Structure (london, England : 1993), 2019

An Intramolecular Interaction of UHRF1 Reveals Dual Control for Its Histone Association.

Gao L et al.

Structure (london, England : 1993), 2018

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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."