Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.V109V

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.V109V
c.327G>A
Surrounding Variants
1 paper
NM_000033.4
p.V109_Y110ins4
c.325_329ins12
2 papers
NM_000033.4
p.S108S
c.324G>A
4 papers
NM_000033.4
p.S108*
c.323C>A
10 papers
NM_000033.4
p.S108W
c.323C>G
10 papers
NM_000033.4
p.S108L
c.323C>T
1 paper
NM_000033.4
p.V109_V111del3
c.325_332del9
1 paper
NM_000033.4
p.A112T
c.334G>A
9 papers
NM_000033.4
p.L107P
c.320T>C
1 paper
NM_000033.4
p.L107L
c.319C>T
1 paper
NM_000033.4
p.R113fs
c.337_338fs
2 papers
NM_000033.4
p.R113C
c.337C>T
1 paper
NM_000033.4
p.R113fs
c.337_338fs
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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."