Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G248R

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.G248R
c.742G>C
Surrounding Variants
1 paper
NM_000033.4
p.G248D
c.743G>A
2 papers
NM_000033.4
p.A247T
c.739G>A
1 paper
NM_000033.4
p.V251del1
c.751_753delGTG
1 paper
NM_000033.4
p.A245D
c.734C>A
1 paper
NM_000033.4
p.V251_L253del3
c.751_758del9
2 papers
NM_000033.4
p.S244S
c.732G>A
1 paper
NM_000033.4
p.S244*
c.731C>A
1 paper
NM_000033.4
p.F252L
c.754T>C
1 paper
NM_000033.4
p.S244_A245ins9
c.730_734ins27
1 paper
NM_000033.4
p.P243_S244insFs
c.729_730insTT
1 paper
NM_000033.4
p.F252L
c.756C>A
1 paper
NM_000033.4
p.F252L
c.756C>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."