Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.V157G
Back to variants list

ETFA

NM_000126.4:p.V157G

Associated Papers

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.

Parvini F et al.

Orphanet Journal of Rare Diseases, 2025

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

Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.

Henriques BJ et al.

Biochimica Et Biophysica Acta, 2010

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Schiff M et al.

Molecular Genetics and Metabolism, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."