Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R8W

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.R8W
c.22C>T
Surrounding Variants
1 paper
NM_000033.4
p.R8delFs
c.24delG
1 paper
NM_000033.4
p.P7P
c.21C>G
1 paper
NM_000033.4
p.P7_L22delFs
c.21_64del44
1 paper
NM_000033.4
p.R6fs
c.16_17fs
1 paper
NM_000033.4
p.W10fs
c.28_29fs
2 papers
NM_000033.4
p.W10*
c.29G>A
2 papers
NM_000033.4
p.W10*
c.30G>A
1 paper
NM_000033.4
p.G12delFs
c.35delG
1 paper
NM_000033.4
p.R11Q
c.32G>A
1 paper
NM_000033.4
p.L4fs
c.10_11fs
1 paper
NM_000033.4
p.G12R
c.34G>A
1 paper
NM_000033.4
p.V3delFs
c.9delG
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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."