Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S149fs

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.S149fs
c.445_446fs
Surrounding Variants
2 papers
NM_000033.4
p.S149R
c.445A>C
1 paper
NM_000033.4
p.S149C
c.445A>T
7 papers
NM_000033.4
p.S149N
c.446G>A
12 papers
NM_000033.4
p.N148S
c.443A>G
1 paper
NM_000033.4
p.S149_A150delFs
c.445_449del5
2 papers
NM_000033.4
p.S149R
c.447T>A
2 papers
NM_000033.4
p.S149R
c.447T>G
3 papers
NM_000033.4
p.N148D
c.442A>G
1 paper
NM_000033.4
p.N148Y
c.442A>T
1 paper
NM_000033.4
p.A150P
c.448G>C
1 paper
NM_000033.4
p.V147G
c.440T>G
2 papers
NM_000033.4
p.N148del1
c.442_444delAAC
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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."