Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.K217E
Back to variants list

ABCD1

NM_000033.4:p.K217E

Associated Papers

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf

Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.

Kawaguchi K et al.

Chemical & Pharmaceutical Bulletin, 2022

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

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

Morita M et al.

Jimd Reports, 2013

Two novel multiple mutations in chinese patients with adrenoleukodystrophy.

Ke LF et al.

Neuropediatrics, 2010

X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.

Berger J et al.

Biochimica Et Biophysica Acta, 2006

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L et al.

Human Mutation, 2001

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."