Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.E577*

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
4 papers
NM_000033.4
p.E577*
c.1729G>T
Surrounding Variants
3 papers
NM_000033.4
p.L576P
c.1727T>C
1 paper
NM_000033.4
p.D575_L576insFs
c.1725_1726insC
4 papers
NM_000033.4
p.I579delFs
c.1735delA
1 paper
NM_000033.4
p.D575del1
c.1723_1724delGAC
1 paper
NM_000033.4
p.I579T
c.1736T>C
1 paper
NM_000033.4
p.D581_L585del5
c.1741_1754del15
2 papers
NM_000033.4
p.Q574*
c.1720C>T
1 paper
NM_000033.4
p.L580P
c.1739T>C
1 paper
NM_000033.4
p.S572*
c.1715C>A
1 paper
NM_000033.4
p.S572W
c.1715C>G
1 paper
NM_000033.4
p.S572L
c.1715C>T
1 paper
NM_000033.4
p.V582I
c.1744G>A
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