Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R591W

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
11 papers
NM_000033.4
p.R591W
c.1771C>T
Surrounding Variants
21 papers
NM_000033.4
p.R591Q
c.1772G>A
3 papers
NM_000033.4
p.R591P
c.1772G>C
2 papers
NM_000033.4
p.R591L
c.1772G>T
4 papers
NM_000033.4
p.Q590*
c.1768C>T
1 paper
NM_000033.4
p.E592insFs
c.1774_1775insA
1 paper
NM_000033.4
p.E592delFs
c.1776delG
2 papers
NM_000033.4
p.G593R
c.1777G>A
1 paper
NM_000033.4
p.G593R
c.1777G>C
2 papers
NM_000033.4
p.G594S
c.1780G>A
2 papers
NM_000033.4
p.G594R
c.1780G>C
2 papers
NM_000033.4
p.G594Splc
c.1780+1G>A
1 paper
NM_000033.4
p.G594V
c.1781G>T
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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."