Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.G37Splc

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
Selected Variant
1 paper
NM_002858.4
p.G37Splc
c.111-4418G>T
Surrounding Variants
2 papers
NM_002858.4
p.P44S
c.130C>T
1 paper
NM_002858.4
p.P44L
c.131C>T
1 paper
NM_002858.4
p.Q46*
c.136C>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."