Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.P525S

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.P525S
c.1573C>T
Surrounding Variants
2 papers
NM_000033.4
p.P525L
c.1574C>T
1 paper
NM_000033.4
p.W524R
c.1570T>C
1 paper
NM_000033.4
p.T526K
c.1577C>A
3 papers
NM_000033.4
p.L523F
c.1567C>T
1 paper
NM_000033.4
p.L523fs
c.1567_1568fs
2 papers
NM_000033.4
p.Y527*
c.1581C>A
2 papers
NM_000033.4
p.Y527*
c.1581C>G
1 paper
NM_000033.4
p.Y527Y
c.1581C>T
2 papers
NM_000033.4
p.G529del1
c.1585_1586delGGT
2 papers
NM_000033.4
p.G522R
c.1564G>A
1 paper
NM_000033.4
p.G528S
c.1582G>A
1 paper
NM_000033.4
p.G522R
c.1564G>C
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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."