Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L24fs

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.L24fs
c.70_71fs
Surrounding Variants
1 paper
NM_000033.4
p.L24P
c.71T>C
3 papers
NM_000033.4
p.A23_G28delFs
c.67_83del17
1 paper
NM_000033.4
p.L22L
c.64C>T
1 paper
NM_000033.4
p.L21fs
c.61_62fs
1 paper
NM_000033.4
p.L21insFs
c.61dupC
1 paper
NM_000033.4
p.V20A
c.59T>C
1 paper
NM_000033.4
p.V20L
c.58G>C
1 paper
NM_000033.4
p.V20L
c.58G>T
1 paper
NM_000033.4
p.V20_A25del0
c.59_73del15
1 paper
NM_000033.4
p.A19P
c.55G>C
1 paper
NM_000033.4
p.A19S
c.55G>T
1 paper
NM_000033.4
p.A19delFs
c.56delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."