Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G116R
Back to variants list

ETFDH

NM_004453.4:p.G116R

Associated Papers

[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].

Feng LF et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

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

Binding of the human "electron transferring flavoprotein" (ETF) to the medium chain acyl-CoA dehydrogenase (MCAD) involves an arginine and histidine residue.

Parker AR

Journal of Enzyme Inhibition and Medicinal Chemistry, 2003

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK et al.

Human Mutation, 2003

Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

Salazar D et al.

The Journal of Biological Chemistry, 1997

Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.

Roberts DL et al.

Proceedings of the National Academy of Sciences of the United States of America, 1996

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."