Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L220P

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
11 papers
NM_000033.4
p.L220P
c.659T>C
Surrounding Variants
1 paper
NM_000033.4
p.L220L
c.658C>T
1 paper
NM_000033.4
p.L220del1
c.658_660delCTG
1 paper
NM_000033.4
p.D221Y
c.661G>T
6 papers
NM_000033.4
p.D221G
c.662A>G
2 papers
NM_000033.4
p.D221delFs
c.663delC
1 paper
NM_000033.4
p.V222M
c.664G>A
1 paper
NM_000033.4
p.V222L
c.664G>C
1 paper
NM_000033.4
p.V222L
c.664G>T
1 paper
NM_000033.4
p.P218L
c.653C>T
4 papers
NM_000033.4
p.P218T
c.652C>A
3 papers
NM_000033.4
p.P218S
c.652C>T
1 paper
NM_000033.4
p.A223T
c.667G>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."