Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.T228I

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.T228I
c.683C>T
Surrounding Variants
1 paper
NM_000033.4
p.T228insFs
c.683_684insG
1 paper
NM_000033.4
p.T228_L229insFs
c.684_685insG
1 paper
NM_000033.4
p.L229V
c.685C>G
6 papers
NM_000033.4
p.L229P
c.686T>C
1 paper
NM_000033.4
p.Y227fs
c.679_680fs
1 paper
NM_000033.4
p.S226F
c.677C>T
1 paper
NM_000033.4
p.L230ins2
c.689_690ins6
2 papers
NM_000033.4
p.S226delFs
c.678delC
1 paper
NM_000033.4
p.S226del1
c.676_677delTCC
1 paper
NM_000033.4
p.T225I
c.674C>T
1 paper
NM_000033.4
p.S226delFs
c.676delT
1 paper
NM_000033.4
p.R231P
c.692G>C
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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."