Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R496_V497Splc

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.R496_V497Splc
c.1489-2A>G
Surrounding Variants
1 paper
NM_000033.4
p.R496_V497Splc
c.1489-1G>A
1 paper
NM_000033.4
p.V497M
c.1489G>A
1 paper
NM_000033.4
p.V497fs
c.1489_1490fs
1 paper
NM_000033.4
p.G500V
c.1499G>T
1 paper
NM_000033.4
p.M501delFs
c.1501delA
1 paper
NM_000033.4
p.M501L
c.1501A>C
1 paper
NM_000033.4
p.M501L
c.1501A>T
1 paper
NM_000033.4
p.M501delFs
c.1502delT
2 papers
NM_000033.4
p.M501fs
c.1501_1502fs
1 paper
NM_000033.4
p.L503M
c.1507C>A
5 papers
NM_000033.4
p.L503P
c.1508T>C
1 paper
NM_000033.4
p.L503delFs
c.1509delG
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