Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A255T

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.A255T
c.763G>A
Surrounding Variants
1 paper
NM_000033.4
p.N256_V257insFs
c.766_769dup4
9 papers
NM_000033.4
p.T254M
c.761C>T
3 papers
NM_000033.4
p.T254P
c.760A>C
2 papers
NM_000033.4
p.T254A
c.760A>G
1 paper
NM_000033.4
p.T254delFs
c.761delC
1 paper
NM_000033.4
p.T254fs
c.760_761fs
1 paper
NM_000033.4
p.T254insFs
c.760dupA
1 paper
NM_000033.4
p.N256K
c.768C>G
5 papers
NM_000033.4
p.L253_T254insC
c.757_761ins3
2 papers
NM_000033.4
p.L253V
c.757C>G
1 paper
NM_000033.4
p.L253F
c.757C>T
1 paper
NM_000033.4
p.F252L
c.756C>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."