Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L392fs

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.L392fs
c.1174_1175fs
Surrounding Variants
1 paper
NM_000033.4
p.L392V
c.1174C>G
2 papers
NM_000033.4
p.L392L
c.1174C>T
2 papers
NM_000033.4
p.L391P
c.1172T>C
1 paper
NM_000033.4
p.L392_T393delFs
c.1174_1178del5
1 paper
NM_000033.4
p.L391F
c.1171C>T
1 paper
NM_000033.4
p.T393I
c.1178C>T
1 paper
NM_000033.4
p.N390T
c.1169A>C
1 paper
NM_000033.4
p.N390delFs
c.1170delC
1 paper
NM_000033.4
p.A394delFs
c.1180delG
1 paper
NM_000033.4
p.L391_T393delFs
c.1171_1178del8
1 paper
NM_000033.4
p.A394V
c.1181C>T
2 papers
NM_000033.4
p.A394delFs
c.1182delG
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