Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R120fs

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.R120fs
c.358_359fs
Surrounding Variants
2 papers
NM_000033.4
p.R120P
c.359G>C
1 paper
NM_000033.4
p.A119D
c.356C>A
1 paper
NM_000033.4
p.A119insFs
c.356dupC
1 paper
NM_000033.4
p.R117S
c.351G>C
1 paper
NM_000033.4
p.R117S
c.351G>T
1 paper
NM_000033.4
p.V123G
c.368T>G
3 papers
NM_000033.4
p.G116E
c.347G>A
1 paper
NM_000033.4
p.G116delins
c.347_348delinsAT
20 papers
NM_000033.4
p.G116R
c.346G>A
17 papers
NM_000033.4
p.G116R
c.346G>C
1 paper
NM_000033.4
p.G116ins0
c.346_348dupGGA
1 paper
NM_000033.4
p.R124H
c.371G>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."