Varaico: Literature-Extracted Genetic Variants

Gene:RHBDD1
Variant:p.S144A
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RHBDD1

NM_001167608.3:p.S144A

Associated Papers

Eta-secretase-like processing of the amyloid precursor protein (APP) by the rhomboid protease RHBDL4.

Penalva YCM et al.

The Journal of Biological Chemistry, 2024

RHBDL4-triggered downregulation of COPII adaptor protein TMED7 suppresses TLR4-mediated inflammatory signaling.

Knopf JD et al.

Nature Communications, 2024

Mechanism-based traps enable protease and hydrolase substrate discovery.

Tang S et al.

Nature, 2022

Membrane cholesterol as regulator of human rhomboid protease RHBDL4.

Paschkowsky S et al.

The Journal of Biological Chemistry, 2018

Alternative Processing of the Amyloid Precursor Protein Family by Rhomboid Protease RHBDL4.

Paschkowsky S et al.

The Journal of Biological Chemistry, 2016

Rhomboid domain containing 1 promotes colorectal cancer growth through activation of the EGFR signalling pathway.

Song W et al.

Nature Communications, 2015

A novel member of the Rhomboid family, RHBDD1, regulates BIK-mediated apoptosis.

Wang Y et al.

Cellular and Molecular Life Sciences : Cmls, 2008

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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."