Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L211F

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
2 papers
NM_000033.4
p.L211F
c.631C>T
Surrounding Variants
5 papers
NM_000033.4
p.L211P
c.632T>C
1 paper
NM_000033.4
p.H210fs
c.628_629fs
4 papers
NM_000033.4
p.Y212*
c.636C>A
1 paper
NM_000033.4
p.A209D
c.626C>A
5 papers
NM_000033.4
p.Y212*
c.636C>G
1 paper
NM_000033.4
p.A209V
c.626C>T
1 paper
NM_000033.4
p.A209T
c.625G>A
1 paper
NM_000033.4
p.H210delFs
c.628delC
7 papers
NM_000033.4
p.S213C
c.638C>G
1 paper
NM_000033.4
p.S213F
c.638C>T
1 paper
NM_000033.4
p.V208E
c.623T>A
6 papers
NM_000033.4
p.N214D
c.640A>G
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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."