Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S514I

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.S514I
c.1541G>T
Surrounding Variants
5 papers
NM_000033.4
p.S514N
c.1541G>A
5 papers
NM_000033.4
p.S514R
c.1540A>C
1 paper
NM_000033.4
p.S514G
c.1540A>G
5 papers
NM_000033.4
p.S514R
c.1542C>A
5 papers
NM_000033.4
p.S514R
c.1542C>G
1 paper
NM_000033.4
p.K513T
c.1538A>C
5 papers
NM_000033.4
p.K513R
c.1538A>G
1 paper
NM_000033.4
p.S515Y
c.1544C>A
12 papers
NM_000033.4
p.S515F
c.1544C>T
2 papers
NM_000033.4
p.K513Q
c.1537A>C
1 paper
NM_000033.4
p.L516V
c.1546C>G
1 paper
NM_000033.4
p.L516fs
c.1546_1547fs
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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."