Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.T145A

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.T145A
c.433A>G
Surrounding Variants
1 paper
NM_000033.4
p.A144S
c.430G>T
1 paper
NM_000033.4
p.F146I
c.436T>A
1 paper
NM_000033.4
p.F146delFs
c.438delC
1 paper
NM_000033.4
p.P143H
c.428C>A
2 papers
NM_000033.4
p.P143L
c.428C>T
2 papers
NM_000033.4
p.P143A
c.427C>G
6 papers
NM_000033.4
p.P143S
c.427C>T
1 paper
NM_000033.4
p.L142L
c.426C>A
1 paper
NM_000033.4
p.V147G
c.440T>G
2 papers
NM_000033.4
p.N148del1
c.442_444delAAC
3 papers
NM_000033.4
p.N148D
c.442A>G
1 paper
NM_000033.4
p.N148Y
c.442A>T
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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."