Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.M1_P2insFs

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.M1_P2insFs
c.3_4insT
Surrounding Variants
3 papers
NM_000033.4
p.M1I
c.3G>A
2 papers
NM_000033.4
p.M1I
c.3G>C
1 paper
NM_000033.4
p.M1_P2insFs
c.3_4insA
4 papers
NM_000033.4
p.M1I
c.3G>T
1 paper
NM_000033.4
p.P2insFs
c.5_6ins4
1 paper
NM_000033.4
p.P2S
c.4C>T
1 paper
NM_000033.4
p.M1K
c.2T>A
4 papers
NM_000033.4
p.M1T
c.2T>C
1 paper
NM_000033.4
p.M1R
c.2T>G
1 paper
NM_000033.4
p.M1insFs
c.1_2ins8
11 papers
NM_000033.4
p.M1V
c.1A>G
1 paper
NM_000033.4
p.M1L
c.1A>T
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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."