Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.S132A
Back to variants list

CERT1

NM_001379029.1:p.S132A

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Involvement of a Cluster of Basic Amino Acids in Phosphorylation-Dependent Functional Repression of the Ceramide Transport Protein CERT.

Goto A et al.

International Journal of Molecular Sciences, 2022

Hyperosmotic Stress Induces Phosphorylation of CERT and Enhances Its Tethering throughout the Endoplasmic Reticulum.

Shimasaki K et al.

International Journal of Molecular Sciences, 2022

Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.

Tamura N et al.

The Journal of Biological Chemistry, 2021

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Murakami H et al.

Plos One, 2020

Phosphoinositide binding by the PH domain in ceramide transfer protein (CERT) is inhibited by hyperphosphorylation of an adjacent serine-repeat motif.

Sugiki T et al.

The Journal of Biological Chemistry, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."