Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Y559H

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.Y559H
c.1675T>C
Surrounding Variants
1 paper
NM_000033.4
p.Y559insFs
c.1676dupA
2 papers
NM_000033.4
p.Y559C
c.1676A>G
1 paper
NM_000033.4
p.Y559*
c.1677C>A
2 papers
NM_000033.4
p.Y559*
c.1677C>G
1 paper
NM_000033.4
p.I558T
c.1673T>C
1 paper
NM_000033.4
p.P560A
c.1678C>G
2 papers
NM_000033.4
p.P560S
c.1678C>T
4 papers
NM_000033.4
p.P560R
c.1679C>G
32 papers
NM_000033.4
p.P560L
c.1679C>T
1 paper
NM_000033.4
p.D561N
c.1681G>A
1 paper
NM_000033.4
p.D561V
c.1682A>T
6 papers
NM_000033.4
p.Q556R
c.1667A>G
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."