Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.L23_K28delFs

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
3 papers
NM_002858.4
p.L23_K28delFs
c.67_83del17
Surrounding Variants
1 paper
NM_002858.4
p.L21L
c.63G>A
1 paper
NM_002858.4
p.C24Y
c.71G>A
1 paper
NM_002858.4
p.L25R
c.74T>G
1 paper
NM_002858.4
p.A19S
c.55G>T
2 papers
NM_002858.4
p.G17D
c.50G>A
1 paper
NM_002858.4
p.A16G
c.47C>G
1 paper
NM_002858.4
p.A16V
c.47C>T
1 paper
NM_002858.4
p.N12Y
c.34A>T
1 paper
NM_002858.4
p.N12insFs
c.35dupA
1 paper
NM_002858.4
p.G34A
c.101G>C
1 paper
NM_002858.4
p.A10V
c.29C>T
1 paper
NM_002858.4
p.K6E
c.16A>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."