Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.P143S

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
6 papers
NM_000033.4
p.P143S
c.427C>T
Surrounding Variants
2 papers
NM_000033.4
p.P143A
c.427C>G
1 paper
NM_000033.4
p.L142L
c.426C>A
1 paper
NM_000033.4
p.P143H
c.428C>A
2 papers
NM_000033.4
p.P143L
c.428C>T
1 paper
NM_000033.4
p.L142F
c.424C>T
1 paper
NM_000033.4
p.L142fs
c.424_425fs
1 paper
NM_000033.4
p.A144S
c.430G>T
5 papers
NM_000033.4
p.A141V
c.422C>T
1 paper
NM_000033.4
p.T145A
c.433A>G
17 papers
NM_000033.4
p.A141T
c.421G>A
1 paper
NM_000033.4
p.L142delFs
c.424delC
1 paper
NM_000033.4
p.A141fs
c.421_422fs
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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."