Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S58F

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.S58F
c.173C>T
Surrounding Variants
1 paper
NM_000033.4
p.G59_Q73del15
c.175_218del45
1 paper
NM_000033.4
p.G59G
c.177G>A
1 paper
NM_000033.4
p.V60L
c.178G>C
1 paper
NM_000033.4
p.Q55*
c.163C>T
1 paper
NM_000033.4
p.T54fs
c.160_161fs
1 paper
NM_000033.4
p.T54_A57insFs
c.160_169dup10
3 papers
NM_000033.4
p.P53P
c.159C>T
1 paper
NM_000033.4
p.T54_A57delFs
c.160_170del11
1 paper
NM_000033.4
p.K64N
c.192A>C
1 paper
NM_000033.4
p.E52*
c.154G>T
1 paper
NM_000033.4
p.G51A
c.152G>C
1 paper
NM_000033.4
p.G51R
c.151G>A
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