Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.F130C

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.F130C
c.389T>G
Surrounding Variants
1 paper
NM_000033.4
p.G131C
c.391G>T
1 paper
NM_000033.4
p.A129delFs
c.387delT
2 papers
NM_000033.4
p.G131V
c.392G>T
1 paper
NM_000033.4
p.A129T
c.385G>A
4 papers
NM_000033.4
p.A129insFs
c.385_386insC
1 paper
NM_000033.4
p.R128_A129insFs
c.384_385insA
1 paper
NM_000033.4
p.A129del1
c.385_386delGCT
9 papers
NM_000033.4
p.W132*
c.395G>A
1 paper
NM_000033.4
p.R128W
c.382C>T
7 papers
NM_000033.4
p.W132*
c.396G>A
1 paper
NM_000033.4
p.Q133insFs
c.398_399ins4
1 paper
NM_000033.4
p.Q133_L134insA
c.397_401ins3
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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."