Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G92R

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
3 papers
NM_000033.4
p.G92R
c.274G>C
Surrounding Variants
3 papers
NM_000033.4
p.G92R
c.274G>A
1 paper
NM_000033.4
p.G92delFs
c.276delG
1 paper
NM_000033.4
p.G92G
c.276G>C
1 paper
NM_000033.4
p.L93_A99insFs
c.277_296dup20
1 paper
NM_000033.4
p.L93delFs
c.277delC
1 paper
NM_000033.4
p.E90_L93insFs
c.270_279dup10
1 paper
NM_000033.4
p.L94delFs
c.281_282delTG
1 paper
NM_000033.4
p.L94fs
c.280_281fs
4 papers
NM_000033.4
p.E90K
c.268G>A
1 paper
NM_000033.4
p.E90fs
c.268_269fs
1 paper
NM_000033.4
p.R89Q
c.266G>A
1 paper
NM_000033.4
p.R89G
c.265C>G
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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."