Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.R529Q

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.R529Q
c.1586G>A
Surrounding Variants
1 paper
NM_002858.4
p.E530K
c.1588G>A
1 paper
NM_002858.4
p.P526S
c.1576C>T
1 paper
NM_002858.4
p.I524_D527delFs
c.1572_1581del10
1 paper
NM_002858.4
p.D521fs
c.1561_1562fs
1 paper
NM_002858.4
p.R520delFs
c.1559_1560delGA
2 papers
NM_002858.4
p.L516P
c.1547T>C
1 paper
NM_002858.4
p.M514L
c.1540A>C
1 paper
NM_002858.4
p.M514L
c.1540A>T
1 paper
NM_002858.4
p.Q510*
c.1528C>T
1 paper
NM_002858.4
p.R496H
c.1487G>A
1 paper
NM_002858.4
p.R496L
c.1487G>T
1 paper
NM_002858.4
p.F493insFs
c.1479dupT
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