Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.V193A

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.V193A
c.578T>C
Surrounding Variants
1 paper
NM_002858.4
p.N198Y
c.592A>T
1 paper
NM_002858.4
p.D186N
c.556G>A
1 paper
NM_002858.4
p.P185P
c.555A>G
1 paper
NM_002858.4
p.D202G
c.605A>G
1 paper
NM_002858.4
p.S205A
c.613T>G
3 papers
NM_002858.4
p.K209M
c.626A>T
1 paper
NM_002858.4
p.Q168K
c.502C>A
1 paper
NM_002858.4
p.R157K
c.470G>A
1 paper
NM_002858.4
p.R157M
c.470G>T
2 papers
NM_002858.4
p.N148S
c.443A>G
1 paper
NM_002858.4
p.N141K
c.423C>A
1 paper
NM_002858.4
p.N141K
c.423C>G
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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."