Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R172Fs

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.R172Fs
c.514delinsGTAFs
Surrounding Variants
2 papers
NM_000033.4
p.R172insFs
c.515_516insC
1 paper
NM_000033.4
p.L173H
c.518T>A
1 paper
NM_000033.4
p.A170V
c.509C>T
2 papers
NM_000033.4
p.A170T
c.508G>A
1 paper
NM_000033.4
p.Y174H
c.520T>C
10 papers
NM_000033.4
p.Y174D
c.520T>G
15 papers
NM_000033.4
p.Y174S
c.521A>C
16 papers
NM_000033.4
p.Y174C
c.521A>G
1 paper
NM_000033.4
p.Y174F
c.521A>T
1 paper
NM_000033.4
p.H169delFs
c.507delC
1 paper
NM_000033.4
p.Y174*
c.522C>A
2 papers
NM_000033.4
p.F175insFs
c.524_525insT
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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."