Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.F517delFs

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.F517delFs
c.1551delC
Surrounding Variants
2 papers
NM_000033.4
p.F517L
c.1551C>G
1 paper
NM_000033.4
p.R518fs
c.1552_1553fs
4 papers
NM_000033.4
p.R518G
c.1552C>G
24 papers
NM_000033.4
p.R518W
c.1552C>T
9 papers
NM_000033.4
p.L516L
c.1548G>A
29 papers
NM_000033.4
p.R518Q
c.1553G>A
1 paper
NM_000033.4
p.R518P
c.1553G>C
6 papers
NM_000033.4
p.L516P
c.1547T>C
1 paper
NM_000033.4
p.L516V
c.1546C>G
1 paper
NM_000033.4
p.L516fs
c.1546_1547fs
1 paper
NM_000033.4
p.I519V
c.1555A>G
1 paper
NM_000033.4
p.S515Y
c.1544C>A
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