Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R231_A232Fs

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.R231_A232Fs
c.692_694delinsCFs
Surrounding Variants
1 paper
NM_000033.4
p.R231P
c.692G>C
1 paper
NM_000033.4
p.A232V
c.695C>T
1 paper
NM_000033.4
p.A232_A233delFs
c.696_697delGG
1 paper
NM_000033.4
p.L230ins2
c.689_690ins6
3 papers
NM_000033.4
p.A233T
c.697G>A
1 paper
NM_000033.4
p.R234insFs
c.700dupC
6 papers
NM_000033.4
p.L229P
c.686T>C
1 paper
NM_000033.4
p.L229V
c.685C>G
1 paper
NM_000033.4
p.T228_L229insFs
c.684_685insG
3 papers
NM_000033.4
p.R234C
c.700C>T
1 paper
NM_000033.4
p.R234fs
c.700_701fs
1 paper
NM_000033.4
p.T228insFs
c.683_684insG
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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."