Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3

ABCD3

158 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 70–338UCSCABC transporter transmembrane region 2
ABC_tranaa 456–599UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 3

HGNC Previous Symbol

PXMP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
4 papers
NM_002858.4
p.F129insFs
c.385_386insG
4 papers
NM_002858.4
p.V605E
c.1814T>A
3 papers
NM_002858.4
p.L23_K28delFs
c.67_83del17
3 papers
NM_002858.4
p.E55K
c.163G>A
3 papers
NM_002858.4
p.K209M
c.626A>T
3 papers
NM_002858.4
p.G478R
c.1432G>A
3 papers
NM_002858.4
p.G478R
c.1432G>C
3 papers
NM_002858.4
p.S572I
c.1715G>T
2 papers
NM_002858.4
p.G17D
c.50G>A
2 papers
NM_002858.4
p.P44S
c.130C>T
2 papers
NM_002858.4
p.G52V
c.155G>T
2 papers
NM_002858.4
p.L88F
c.262C>T
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."