Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.H669Q
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HUWE1

NM_031407.7:p.H669Q

Associated Papers

Structural ubiquitin contributes to K48 linkage specificity of the HECT ligase Tom1.

Warner K et al.

Cell Reports, 2025

HAPSTR1 localizes HUWE1 to the nucleus to limit stress signaling pathways.

Monda JK et al.

Cell Reports, 2023

HUWE1 Amplifies Ubiquitin Modifications to Broadly Stimulate Clearance of Proteins and Aggregates.

Zhou M et al.

Biorxiv : the Preprint Server for Biology, 2023

Solenoid architecture of HUWE1 contributes to ligase activity and substrate recognition.

Hunkeler M et al.

Molecular Cell, 2021

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S et al.

European Journal of Human Genetics : Ejhg, 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."