Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.K217E

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
7 papers
NM_000033.4
p.K217E
c.649A>G
Surrounding Variants
1 paper
NM_000033.4
p.T216I
c.647C>T
1 paper
NM_000033.4
p.K217N
c.651G>C
1 paper
NM_000033.4
p.K217N
c.651G>T
4 papers
NM_000033.4
p.P218T
c.652C>A
3 papers
NM_000033.4
p.P218S
c.652C>T
1 paper
NM_000033.4
p.P218L
c.653C>T
2 papers
NM_000033.4
p.L215P
c.644T>C
3 papers
NM_000033.4
p.L215L
c.643C>T
1 paper
NM_000033.4
p.N214insFs
c.641_642insC
1 paper
NM_000033.4
p.L220del1
c.658_660delCTG
6 papers
NM_000033.4
p.N214D
c.640A>G
1 paper
NM_000033.4
p.N214fs
c.640_641fs
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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."