Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.M566V

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.M566V
c.1696A>G
Surrounding Variants
8 papers
NM_000033.4
p.M566K
c.1697T>A
2 papers
NM_000033.4
p.M566T
c.1697T>C
1 paper
NM_000033.4
p.M566_G570del0
c.1696_1710del15
3 papers
NM_000033.4
p.Q567*
c.1699C>T
1 paper
NM_000033.4
p.R568delFs
c.1703_1704delGG
1 paper
NM_000033.4
p.R568K
c.1703G>A
1 paper
NM_000033.4
p.V563fs
c.1687_1688fs
1 paper
NM_000033.4
p.V563insFs
c.1687dupG
1 paper
NM_000033.4
p.G570delFs
c.1708_1709delGG
1 paper
NM_000033.4
p.S562P
c.1684T>C
1 paper
NM_000033.4
p.D561D
c.1683C>T
1 paper
NM_000033.4
p.D561V
c.1682A>T
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