Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.P84L

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.P84L
c.251C>T
Surrounding Variants
2 papers
NM_000033.4
p.V86_E90ins1
c.257_268dup12
1 paper
NM_000033.4
p.P84fs
c.250_251fs
1 paper
NM_000033.4
p.P84A
c.250C>G
1 paper
NM_000033.4
p.R85fs
c.253_254fs
1 paper
NM_000033.4
p.R85W
c.253C>T
9 papers
NM_000033.4
p.R85fs
c.253_254fs
1 paper
NM_000033.4
p.R85Q
c.254G>A
2 papers
NM_000033.4
p.R85P
c.254G>C
1 paper
NM_000033.4
p.F83Y
c.248T>A
14 papers
NM_000033.4
p.R85insFs
c.253dupC
2 papers
NM_000033.4
p.R85delFs
c.253delC
1 paper
NM_000033.4
p.P84_R85del1
c.251_253delCCC
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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."