Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.E147A
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SMCHD1

NM_015295.3:p.E147A

Associated Papers

SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.

Gurzau AD et al.

The Biochemical Journal, 2021

Relating SMCHD1 structure to its function in epigenetic silencing.

Gurzau AD et al.

Biochemical Society Transactions, 2020

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.

Kinjo K et al.

Scientific Reports, 2020

A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1.

Pedersen LC et al.

Communications Biology, 2019

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.

Hiramuki Y et al.

Skeletal Muscle, 2018

The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

Chen K et al.

The Biochemical Journal, 2016

Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.

Brideau NJ et al.

Molecular and Cellular Biology, 2015

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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."