Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.P546P

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
3 papers
NM_000033.4
p.P546P
c.1638C>T
Surrounding Variants
3 papers
NM_000033.4
p.Y547C
c.1640A>G
2 papers
NM_000033.4
p.P546delFs
c.1636delC
1 paper
NM_000033.4
p.M548V
c.1642A>G
1 paper
NM_000033.4
p.R545Splc
c.1635-2A>T
1 paper
NM_000033.4
p.G551S
c.1651G>A
3 papers
NM_000033.4
p.G551D
c.1652G>A
1 paper
NM_000033.4
p.G551A
c.1652G>C
1 paper
NM_000033.4
p.G551_S552insFs
c.1653_1654insG
1 paper
NM_000033.4
p.G551G
c.1653C>T
5 papers
NM_000033.4
p.S552P
c.1654T>C
1 paper
NM_000033.4
p.L553P
c.1658T>C
1 paper
NM_000033.4
p.R554S
c.1660C>A
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