Varaico: Literature-Extracted Genetic Variants

Gene:HACE1
Variant:p.C876S
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HACE1

NM_020771.4:p.C876S

Associated Papers

HACE1 as a bridge between oxidative stress and autophagy.

Xia J et al.

Frontiers in Immunology, 2025

The HACE1 E3 ligase mediates RAC1-dependent control of mTOR signaling complexes.

Turgu B et al.

Embo Reports, 2023

Ubiquitin-independent proteasomal degradation of Spindlin-1 by the E3 ligase HACE1 contributes to cell-cell adhesion.

Palicharla VR et al.

Febs Letters, 2021

HACE1 Prevents Lung Carcinogenesis via Inhibition of RAC-Family GTPases.

Kogler M et al.

Cancer Research, 2020

How to Inactivate Human Ubiquitin E3 Ligases by Mutation.

Garcia-Barcena C et al.

Frontiers in Cell and Developmental Biology, 2020

Identification of cancer-associated missense mutations in hace1 that impair cell growth control and Rac1 ubiquitylation.

Andrio E et al.

Scientific Reports, 2017

HACE1 mediated K27 ubiquitin linkage leads to YB-1 protein secretion.

Palicharla VR et al.

Cellular Signalling, 2015

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R et al.

Journal of Medical Genetics, 2015

Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression.

Liu Z et al.

Cancer Cell, 2014

HACE1-dependent protein degradation provides cardiac protection in response to haemodynamic stress.

Zhang L et al.

Nature Communications, 2014

Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes.

Daugaard M et al.

Nature Communications, 2013

The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers.

Zhang L et al.

Nature Medicine, 2007

Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney.

Anglesio MS et al.

Human Molecular Genetics, 2004

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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."