Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L520P

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
2 papers
NM_000033.4
p.L520P
c.1559T>C
Surrounding Variants
3 papers
NM_000033.4
p.L520Q
c.1559T>A
1 paper
NM_000033.4
p.G521D
c.1562G>A
1 paper
NM_000033.4
p.I519V
c.1555A>G
1 paper
NM_000033.4
p.G521_P525delins
c.1563_1574delinsAGCACA
2 papers
NM_000033.4
p.G522R
c.1564G>A
1 paper
NM_000033.4
p.G522R
c.1564G>C
1 paper
NM_000033.4
p.G522insFs
c.1564_1565insGA
6 papers
NM_000033.4
p.G522W
c.1564G>T
29 papers
NM_000033.4
p.R518Q
c.1553G>A
1 paper
NM_000033.4
p.R518P
c.1553G>C
1 paper
NM_000033.4
p.R518fs
c.1552_1553fs
4 papers
NM_000033.4
p.R518G
c.1552C>G
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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."