Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1

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
1–12 of 1256 variants
45 papers
NM_000033.4
p.G512S
c.1534G>A
44 papers
NM_000033.4
p.S606L
c.1817C>T
43 papers
NM_000033.4
p.R617H
c.1850G>A
41 papers
NM_000033.4
p.R554H
c.1661G>A
37 papers
NM_000033.4
p.R660W
c.1978C>T
35 papers
NM_000033.4
p.R401Q
c.1202G>A
32 papers
NM_000033.4
p.P560L
c.1679C>T
30 papers
NM_000033.4
p.G266R
c.796G>A
30 papers
NM_000033.4
p.R617C
c.1849C>T
29 papers
NM_000033.4
p.R518Q
c.1553G>A
27 papers
NM_000033.4
p.S606P
c.1816T>C
26 papers
NM_000033.4
p.G266R
c.796G>C
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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."