Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.G446R
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ALDH6A1

NM_005589.4:p.G446R

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.

Priyadharshini Christy J et al.

Frontiers in Bioscience (landmark Edition), 2015

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Marcadier JL et al.

Orphanet Journal of Rare Diseases, 2013

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Sass JO et al.

Journal of Inherited Metabolic Disease, 2012

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

Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.

Marchitti SA et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

Chambliss KL et al.

Journal of Inherited Metabolic Disease, 2000

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