Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.H283D

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.H283D
c.847C>G
Surrounding Variants
3 papers
NM_000033.4
p.H283Y
c.847C>T
6 papers
NM_000033.4
p.H283R
c.848A>G
2 papers
NM_000033.4
p.M282L
c.844A>C
1 paper
NM_000033.4
p.M282V
c.844A>G
2 papers
NM_000033.4
p.M282L
c.844A>T
1 paper
NM_000033.4
p.S284fs
c.850_851fs
2 papers
NM_000033.4
p.S284*
c.851C>A
1 paper
NM_000033.4
p.S284_R285delFs
c.852_855del4
2 papers
NM_000033.4
p.R285S
c.853C>A
2 papers
NM_000033.4
p.R285G
c.853C>G
1 paper
NM_000033.4
p.R285C
c.853C>T
1 paper
NM_000033.4
p.Y281H
c.841T>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."