Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.L135_I136insC

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.L135_I136insC
c.403_407ins3
Surrounding Variants
1 paper
NM_002858.4
p.I130V
c.388A>G
4 papers
NM_002858.4
p.F129insFs
c.385_386insG
1 paper
NM_002858.4
p.K123N
c.369G>C
1 paper
NM_002858.4
p.K123N
c.369G>T
2 papers
NM_002858.4
p.K123M
c.368A>T
1 paper
NM_002858.4
p.R117H
c.350G>A
1 paper
NM_002858.4
p.G116R
c.346G>C
1 paper
NM_002858.4
p.I136V
c.406A>G
1 paper
NM_002858.4
p.N141K
c.423C>A
1 paper
NM_002858.4
p.N141K
c.423C>G
2 papers
NM_002858.4
p.N148S
c.443A>G
1 paper
NM_002858.4
p.R157K
c.470G>A
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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."