Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L78_L81del0

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.L78_L81del0
c.234_242del9
Surrounding Variants
1 paper
NM_000033.4
p.W77*
c.230G>A
2 papers
NM_000033.4
p.W77*
c.231G>A
1 paper
NM_000033.4
p.W77C
c.231G>C
1 paper
NM_000033.4
p.W77C
c.231G>T
2 papers
NM_000033.4
p.L78F
c.232C>T
1 paper
NM_000033.4
p.L78H
c.233T>A
3 papers
NM_000033.4
p.R74Q
c.221G>A
1 paper
NM_000033.4
p.R74G
c.220C>G
4 papers
NM_000033.4
p.R74W
c.220C>T
1 paper
NM_000033.4
p.R80W
c.238C>T
1 paper
NM_000033.4
p.W77_L79del0
c.229_237del9
1 paper
NM_000033.4
p.L82del1
c.244_245delCTG
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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."