Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S633I

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
4 papers
NM_000033.4
p.S633I
c.1898G>T
Surrounding Variants
4 papers
NM_000033.4
p.S633R
c.1897A>C
1 paper
NM_000033.4
p.S633fs
c.1897_1898fs
4 papers
NM_000033.4
p.S633R
c.1899C>A
4 papers
NM_000033.4
p.S633R
c.1899C>G
2 papers
NM_000033.4
p.S633S
c.1899C>T
1 paper
NM_000033.4
p.T632T
c.1896C>A
5 papers
NM_000033.4
p.A634T
c.1900G>A
6 papers
NM_000033.4
p.T632I
c.1895C>T
2 papers
NM_000033.4
p.A634V
c.1901C>T
4 papers
NM_000033.4
p.T632P
c.1894A>C
6 papers
NM_000033.4
p.V635M
c.1903G>A
1 paper
NM_000033.4
p.V635L
c.1903G>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."