Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.I399delFs

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.I399delFs
c.1195_1196delAT
Surrounding Variants
1 paper
NM_000033.4
p.A398T
c.1192G>A
3 papers
NM_000033.4
p.R401G
c.1201C>G
12 papers
NM_000033.4
p.R401W
c.1201C>T
35 papers
NM_000033.4
p.R401Q
c.1202G>A
5 papers
NM_000033.4
p.A396T
c.1186G>A
1 paper
NM_000033.4
p.A395V
c.1184C>T
1 paper
NM_000033.4
p.A395fs
c.1183_1184fs
2 papers
NM_000033.4
p.I402N
c.1205T>A
1 paper
NM_000033.4
p.M403_S405del3
c.1207_1214del9
1 paper
NM_000033.4
p.A394A
c.1182G>A
1 paper
NM_000033.4
p.A394V
c.1181C>T
2 papers
NM_000033.4
p.A394delFs
c.1182delG
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