Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.P49fs

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.P49fs
c.145_146fs
Surrounding Variants
1 paper
NM_000033.4
p.P49insFs
c.145_146ins4
1 paper
NM_000033.4
p.A48_E52Fs
c.143_155delinsAGFs
1 paper
NM_000033.4
p.A50T
c.148G>A
1 paper
NM_000033.4
p.A50S
c.148G>T
1 paper
NM_000033.4
p.A50D
c.149C>A
1 paper
NM_000033.4
p.A50V
c.149C>T
1 paper
NM_000033.4
p.Q47R
c.140A>G
1 paper
NM_000033.4
p.G51R
c.151G>A
1 paper
NM_000033.4
p.G51R
c.151G>C
1 paper
NM_000033.4
p.G51A
c.152G>C
1 paper
NM_000033.4
p.L46P
c.137T>C
1 paper
NM_000033.4
p.L46_Q47insFs
c.138_139insT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."