Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S161P

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.S161P
c.481T>C
Surrounding Variants
1 paper
NM_000033.4
p.S161S
c.483G>A
8 papers
NM_000033.4
p.L160P
c.479T>C
1 paper
NM_000033.4
p.A159A
c.477C>T
1 paper
NM_000033.4
p.A159V
c.476C>T
3 papers
NM_000033.4
p.R163G
c.487C>G
4 papers
NM_000033.4
p.R163C
c.487C>T
9 papers
NM_000033.4
p.R163H
c.488G>A
3 papers
NM_000033.4
p.R163P
c.488G>C
1 paper
NM_000033.4
p.R163L
c.488G>T
2 papers
NM_000033.4
p.L158P
c.473T>C
1 paper
NM_000033.4
p.Q157Q
c.471A>G
3 papers
NM_000033.4
p.Q157*
c.469C>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."