Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.E271K

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.E271K
c.811G>A
Surrounding Variants
1 paper
NM_000033.4
p.E271fs
c.811_812fs
1 paper
NM_000033.4
p.A270V
c.809C>T
1 paper
NM_000033.4
p.V269V
c.807G>A
1 paper
NM_000033.4
p.A270insFs
c.808dupG
2 papers
NM_000033.4
p.V269L
c.805G>C
1 paper
NM_000033.4
p.A273fs
c.817_818fs
3 papers
NM_000033.4
p.A273E
c.818C>A
1 paper
NM_000033.4
p.A273V
c.818C>T
1 paper
NM_000033.4
p.L268L
c.804G>T
2 papers
NM_000033.4
p.R274W
c.820C>T
1 paper
NM_000033.4
p.V269del1
c.805_806delGTG
1 paper
NM_000033.4
p.R274P
c.821G>C
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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."