Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A45
Variant:p.R285C
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SLC25A45

NM_182556.4:p.R285C

Associated Papers

Mitochondrial control of fuel switching via carnitine biosynthesis.

Auger C et al.

Science (new York, N.y.), 2026

Mitochondrial control of fuel switching via carnitine biosynthesis.

Auger C et al.

Biorxiv : the Preprint Server for Biology, 2025

SLC25A45 is required for mitochondrial uptake of methylated amino acids and de novo carnitine biosynthesis.

Dias MM et al.

Molecular Cell, 2025

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Graham SE et al.

Nature Communications, 2019

31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf

Rare mutations associating with serum creatinine and chronic kidney disease.

Sveinbjornsson G et al.

Human Molecular Genetics, 2014

Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.

Seppälä I et al.

European Heart Journal, 2014

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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."