Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.V201V

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.V201V
c.603G>A
Surrounding Variants
2 papers
NM_000033.4
p.V202M
c.604G>A
1 paper
NM_000033.4
p.V202_A203insACC
c.604_608ins9
1 paper
NM_000033.4
p.V201M
c.601G>A
1 paper
NM_000033.4
p.V202_A203delFs
c.606_607delGG
4 papers
NM_000033.4
p.D200V
c.599A>T
1 paper
NM_000033.4
p.A203_L211del0
c.609_632del24
5 papers
NM_000033.4
p.D200N
c.598G>A
2 papers
NM_000033.4
p.E199K
c.595G>A
1 paper
NM_000033.4
p.T198K
c.593C>A
4 papers
NM_000033.4
p.T198R
c.593C>G
2 papers
NM_000033.4
p.T198M
c.593C>T
1 paper
NM_000033.4
p.A205E
c.614C>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."