Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S262*

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.S262*
c.785C>A
Surrounding Variants
2 papers
NM_000033.4
p.S262W
c.785C>G
2 papers
NM_000033.4
p.F261F
c.783C>T
6 papers
NM_000033.4
p.P263L
c.788C>T
1 paper
NM_000033.4
p.A260T
c.778G>A
1 paper
NM_000033.4
p.F265Y
c.794T>A
1 paper
NM_000033.4
p.F265S
c.794T>C
1 paper
NM_000033.4
p.F265L
c.795C>A
3 papers
NM_000033.4
p.R259W
c.775C>T
1 paper
NM_000033.4
p.G266delFs
c.796delG
30 papers
NM_000033.4
p.G266R
c.796G>A
26 papers
NM_000033.4
p.G266R
c.796G>C
7 papers
NM_000033.4
p.G266E
c.797G>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."