Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R113C

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.R113C
c.337C>T
Surrounding Variants
1 paper
NM_000033.4
p.R113fs
c.337_338fs
1 paper
NM_000033.4
p.R113fs
c.337_338fs
2 papers
NM_000033.4
p.R113H
c.338G>A
2 papers
NM_000033.4
p.R113P
c.338G>C
1 paper
NM_000033.4
p.R113L
c.338G>T
1 paper
NM_000033.4
p.A112T
c.334G>A
2 papers
NM_000033.4
p.L114P
c.341T>C
1 paper
NM_000033.4
p.D115G
c.344A>G
1 paper
NM_000033.4
p.G116ins0
c.346_348dupGGA
20 papers
NM_000033.4
p.G116R
c.346G>A
17 papers
NM_000033.4
p.G116R
c.346G>C
3 papers
NM_000033.4
p.G116E
c.347G>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."