Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R191S

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.R191S
c.571C>A
Surrounding Variants
1 paper
NM_000033.4
p.R191C
c.571C>T
1 paper
NM_000033.4
p.R191L
c.572G>T
2 papers
NM_000033.4
p.L190P
c.569T>C
1 paper
NM_000033.4
p.L190R
c.569T>G
1 paper
NM_000033.4
p.N192K
c.576C>A
2 papers
NM_000033.4
p.R189Q
c.566G>A
1 paper
NM_000033.4
p.P193fs
c.577_578fs
10 papers
NM_000033.4
p.R189W
c.565C>T
3 papers
NM_000033.4
p.D194N
c.580G>A
14 papers
NM_000033.4
p.D194H
c.580G>C
1 paper
NM_000033.4
p.G188W
c.562G>T
1 paper
NM_000033.4
p.D194E
c.582C>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."