Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.Y279N
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ALDH3A2

NM_000382.3:p.Y279N

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Sjogren-Larsson syndrome associated hypermelanosis.

Xu YC et al.

Journal of Cosmetic Dermatology, 2020

Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.

Cho KH et al.

Bmc Medical Genetics, 2018

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH et al.

Clinical Genetics, 2018

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

Gaboon NE et al.

The Journal of Dermatology, 2015

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Keller MA et al.

Nature Communications, 2014

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Incecık F et al.

Annals of Indian Academy of Neurology, 2013

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.

Wang LL et al.

Alcohol (fayetteville, N.y.), 2010

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Rizzo WB et al.

Human Mutation, 2005

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB et al.

American Journal of Human Genetics, 1999

Neuro-ichthyotic Syndromes: A Case Series.

Incecık F et al.

Journal of Pediatric Neurosciences, 0

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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."