Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R44T

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.R44T
c.131G>C
Surrounding Variants
1 paper
NM_000033.4
p.R44K
c.131G>A
1 paper
NM_000033.4
p.G45insFs
c.134dupG
1 paper
NM_000033.4
p.G45insFs
c.133_134insA
1 paper
NM_000033.4
p.G45_L46insFs
c.135_136insC
1 paper
NM_000033.4
p.L46_Q47insFs
c.138_139insT
1 paper
NM_000033.4
p.L46F
c.136C>T
1 paper
NM_000033.4
p.L46P
c.137T>C
1 paper
NM_000033.4
p.P42T
c.124C>A
1 paper
NM_000033.4
p.Q47R
c.140A>G
1 paper
NM_000033.4
p.A48_E52Fs
c.143_155delinsAGFs
1 paper
NM_000033.4
p.L40L
c.118C>T
1 paper
NM_000033.4
p.L40delFs
c.119delT
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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."