Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.N68Y

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.N68Y
c.202A>T
Surrounding Variants
1 paper
NM_000033.4
p.N68ins1
c.202_203insACC
1 paper
NM_000033.4
p.R69W
c.205C>T
2 papers
NM_000033.4
p.G66D
c.197G>A
1 paper
NM_000033.4
p.V70L
c.208G>C
1 paper
NM_000033.4
p.V70L
c.208G>T
1 paper
NM_000033.4
p.F71V
c.211T>G
1 paper
NM_000033.4
p.K64N
c.192A>C
1 paper
NM_000033.4
p.F71S
c.212T>C
2 papers
NM_000033.4
p.Q73*
c.217C>T
2 papers
NM_000033.4
p.L75_L81del0
c.225_242del18
1 paper
NM_000033.4
p.R74G
c.220C>G
4 papers
NM_000033.4
p.R74W
c.220C>T
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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."