Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A238A

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.A238A
c.714C>T
Surrounding Variants
1 paper
NM_000033.4
p.A238D
c.713C>A
1 paper
NM_000033.4
p.G239S
c.715G>A
1 paper
NM_000033.4
p.A238T
c.712G>A
1 paper
NM_000033.4
p.G237R
c.709G>A
3 papers
NM_000033.4
p.R236H
c.707G>A
1 paper
NM_000033.4
p.R236P
c.707G>C
1 paper
NM_000033.4
p.R236S
c.706C>A
1 paper
NM_000033.4
p.R236_T240Fs
c.706_719delinsGFs
1 paper
NM_000033.4
p.S235F
c.704C>T
1 paper
NM_000033.4
p.R236_T240delFs
c.706_719del14
8 papers
NM_000033.4
p.W242*
c.725G>A
8 papers
NM_000033.4
p.W242*
c.726G>A
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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."