Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.K533Q

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.K533Q
c.1597A>C
Surrounding Variants
3 papers
NM_000033.4
p.K533E
c.1597A>G
2 papers
NM_000033.4
p.K533R
c.1598A>G
2 papers
NM_000033.4
p.K533N
c.1599G>C
2 papers
NM_000033.4
p.K533N
c.1599G>T
1 paper
NM_000033.4
p.P534S
c.1600C>T
4 papers
NM_000033.4
p.P534R
c.1601C>G
5 papers
NM_000033.4
p.P534L
c.1601C>T
1 paper
NM_000033.4
p.L531I
c.1591C>A
1 paper
NM_000033.4
p.P535fs
c.1603_1604fs
1 paper
NM_000033.4
p.P535Q
c.1604C>A
5 papers
NM_000033.4
p.V530M
c.1588G>A
1 paper
NM_000033.4
p.P536R
c.1607C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."