Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.Q190*
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ABHD5

NM_016006.6:p.Q190*

Associated Papers

ABHD5-A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions.

Schratter M et al.

Metabolites, 2022

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Kopp J et al.

Genes, 2021

34440338 (PubMed )
Supplement: genes-12-01164-s001.zip › genes-1303691-supplementary.pdf

CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

Yu L et al.

Advances in Experimental Medicine and Biology, 2020

ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier.

Kien B et al.

Journal of Lipid Research, 2018

Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Chang J et al.

Nature Communications, 2017

28548104 (PubMed )
Supplement: ncomms15290-s4.xlsx › Supplementary_Data_3
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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."