Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S98S

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.S98S
c.294G>A
Surrounding Variants
1 paper
NM_000033.4
p.S98S
c.294G>T
1 paper
NM_000033.4
p.S98*
c.293C>A
2 papers
NM_000033.4
p.S98W
c.293C>G
14 papers
NM_000033.4
p.S98L
c.293C>T
1 paper
NM_000033.4
p.A99fs
c.295_296fs
4 papers
NM_000033.4
p.A99D
c.296C>A
2 papers
NM_000033.4
p.S98P
c.292T>C
1 paper
NM_000033.4
p.A100delFs
c.298delG
4 papers
NM_000033.4
p.H97P
c.290A>C
4 papers
NM_000033.4
p.H97L
c.290A>T
1 paper
NM_000033.4
p.A100T
c.298G>A
1 paper
NM_000033.4
p.A100fs
c.298_299fs
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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."