Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.D629N

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.D629N
c.1885G>A
Surrounding Variants
8 papers
NM_000033.4
p.D629H
c.1885G>C
1 paper
NM_000033.4
p.D629Y
c.1885G>T
2 papers
NM_000033.4
p.L628Q
c.1883T>A
1 paper
NM_000033.4
p.D629E
c.1887T>A
2 papers
NM_000033.4
p.L628P
c.1883T>C
2 papers
NM_000033.4
p.D629E
c.1887T>G
2 papers
NM_000033.4
p.E630K
c.1888G>A
3 papers
NM_000033.4
p.E630Q
c.1888G>C
2 papers
NM_000033.4
p.E630G
c.1889A>G
1 paper
NM_000033.4
p.L627H
c.1880T>A
1 paper
NM_000033.4
p.C631R
c.1891T>C
7 papers
NM_000033.4
p.C631Y
c.1892G>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."