Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R152C

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
11 papers
NM_000033.4
p.R152C
c.454C>T
Surrounding Variants
4 papers
NM_000033.4
p.R152S
c.454C>A
1 paper
NM_000033.4
p.R152G
c.454C>G
2 papers
NM_000033.4
p.R152H
c.455G>A
5 papers
NM_000033.4
p.R152P
c.455G>C
3 papers
NM_000033.4
p.R152L
c.455G>T
1 paper
NM_000033.4
p.R152_Y153delFs
c.456_457delTT
1 paper
NM_000033.4
p.I151T
c.452T>C
1 paper
NM_000033.4
p.I151S
c.452T>G
1 paper
NM_000033.4
p.I151_R152delFs
c.453_454delCC
2 papers
NM_000033.4
p.Y153fs
c.457_458fs
1 paper
NM_000033.4
p.A150P
c.448G>C
2 papers
NM_000033.4
p.S149R
c.447T>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."