Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.W137S

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.W137S
c.410G>C
Surrounding Variants
4 papers
NM_000033.4
p.W137*
c.410G>A
4 papers
NM_000033.4
p.W137*
c.411G>A
1 paper
NM_000033.4
p.W137_L138insFs
c.411_412insC
1 paper
NM_000033.4
p.W137C
c.411G>T
1 paper
NM_000033.4
p.L138P
c.413T>C
1 paper
NM_000033.4
p.L135_Q136insC
c.403_407ins3
1 paper
NM_000033.4
p.L134R
c.401T>G
1 paper
NM_000033.4
p.I140insFs
c.419_420insA
17 papers
NM_000033.4
p.A141T
c.421G>A
1 paper
NM_000033.4
p.L142delFs
c.424delC
1 paper
NM_000033.4
p.A141fs
c.421_422fs
1 paper
NM_000033.4
p.L135del1
c.403_405delCTG
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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."