Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.C39Y

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.C39Y
c.116G>A
Surrounding Variants
1 paper
NM_000033.4
p.C39*
c.117C>A
2 papers
NM_000033.4
p.C39fs
c.115_116fs
1 paper
NM_000033.4
p.L40L
c.118C>T
1 paper
NM_000033.4
p.L40delFs
c.119delT
1 paper
NM_000033.4
p.R37insFs
c.109_110ins4
1 paper
NM_000033.4
p.R37C
c.109C>T
1 paper
NM_000033.4
p.P42T
c.124C>A
1 paper
NM_000033.4
p.R37del1
c.109_111delCGC
1 paper
NM_000033.4
p.V36fs
c.106_107fs
1 paper
NM_000033.4
p.V36delFs
c.107delT
1 paper
NM_000033.4
p.R37_C39delFs
c.110_117del8
1 paper
NM_000033.4
p.L35insFs
c.103_104insA
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