Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R545W

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
2 papers
NM_000033.4
p.R545W
c.1633A>T
Surrounding Variants
10 papers
NM_000033.4
p.Q544R
c.1631A>G
1 paper
NM_000033.4
p.Q544K
c.1630C>A
1 paper
NM_000033.4
p.Q544*
c.1630C>T
1 paper
NM_000033.4
p.P543P
c.1629G>A
21 papers
NM_000033.4
p.P543L
c.1628C>T
1 paper
NM_000033.4
p.P543fs
c.1627_1628fs
2 papers
NM_000033.4
p.P543S
c.1627C>T
1 paper
NM_000033.4
p.I542M
c.1626C>G
1 paper
NM_000033.4
p.P543delFs
c.1628delC
1 paper
NM_000033.4
p.I542V
c.1624A>G
4 papers
NM_000033.4
p.F540S
c.1619T>C
2 papers
NM_000033.4
p.F540C
c.1619T>G
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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."