Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L585P

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.L585P
c.1754T>C
Surrounding Variants
1 paper
NM_000033.4
p.H586_R591ins2
c.1757_1771dup15
1 paper
NM_000033.4
p.H587ins0
c.1759_1761dupCAC
1 paper
NM_000033.4
p.H587Y
c.1759C>T
5 papers
NM_000033.4
p.V583E
c.1748T>A
1 paper
NM_000033.4
p.V583A
c.1748T>C
4 papers
NM_000033.4
p.V583M
c.1747G>A
1 paper
NM_000033.4
p.V583L
c.1747G>C
1 paper
NM_000033.4
p.V582_V583insFs
c.1746_1747insCT
1 paper
NM_000033.4
p.V583del1
c.1747_1749delGTG
1 paper
NM_000033.4
p.V582I
c.1744G>A
4 papers
NM_000033.4
p.Q590*
c.1768C>T
1 paper
NM_000033.4
p.L580P
c.1739T>C
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