Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.T105A

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.T105A
c.313A>G
Surrounding Variants
5 papers
NM_000033.4
p.T105P
c.313A>C
1 paper
NM_000033.4
p.T105S
c.314C>G
6 papers
NM_000033.4
p.T105I
c.314C>T
17 papers
NM_000033.4
p.R104H
c.311G>A
1 paper
NM_000033.4
p.R104P
c.311G>C
2 papers
NM_000033.4
p.R104L
c.311G>T
21 papers
NM_000033.4
p.R104C
c.310C>T
5 papers
NM_000033.4
p.S103R
c.309C>A
1 paper
NM_000033.4
p.S103_R104insFs
c.309_310insT
5 papers
NM_000033.4
p.S103R
c.309C>G
2 papers
NM_000033.4
p.S103N
c.308G>A
5 papers
NM_000033.4
p.S103R
c.307A>C
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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."