Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.S380N
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ALDH3A2

NM_000382.3:p.S380N

Associated Papers

Molecular Dynamics Simulation and Essential Dynamics of Deleterious Proline 12 Alanine Single-Nucleotide Polymorphism in PPARγ2 Associated with Type 2 Diabetes, Cardiovascular Disease, and Nonalcoholic Fatty Liver Disease.

Taghvaei S et al.

Ppar Research, 2022

Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.

Udhaya Kumar S et al.

Advances in Protein Chemistry and Structural Biology, 2020

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

Cho KH et al.

Clinical Genetics, 2018

Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.

Priyadharshini Christy J et al.

Frontiers in Bioscience (landmark Edition), 2015

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

Keller MA et al.

Nature Communications, 2014

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

Rizzo WB et al.

Human Mutation, 2005

Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

Carney G et al.

Human Mutation, 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."