Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L87V

ABCD1

890 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_membrane_2aa 78–352UCSCABC transporter transmembrane region 2
ABC_tranaa 490–633UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 1

HGNC Previous Symbol

ALD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000033.4
p.L87V
c.259C>G
Surrounding Variants
1 paper
NM_000033.4
p.V86fs
c.256_257fs
1 paper
NM_000033.4
p.C88G
c.262T>G
5 papers
NM_000033.4
p.C88W
c.264C>G
1 paper
NM_000033.4
p.R85Q
c.254G>A
2 papers
NM_000033.4
p.R85P
c.254G>C
1 paper
NM_000033.4
p.R85fs
c.253_254fs
1 paper
NM_000033.4
p.R89G
c.265C>G
1 paper
NM_000033.4
p.R85W
c.253C>T
1 paper
NM_000033.4
p.E90delFs
c.268delG
9 papers
NM_000033.4
p.R85fs
c.253_254fs
1 paper
NM_000033.4
p.R89Q
c.266G>A
2 papers
NM_000033.4
p.V86_E90ins1
c.257_268dup12
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."