Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.S572I

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.S572I
c.1715G>T
Surrounding Variants
1 paper
NM_002858.4
p.S572S
c.1716T>C
1 paper
NM_002858.4
p.G573G
c.1719T>C
1 paper
NM_002858.4
p.W561*
c.1683G>A
1 paper
NM_002858.4
p.I554I
c.1662C>T
2 papers
NM_002858.4
p.G552C
c.1654G>T
1 paper
NM_002858.4
p.Q550*
c.1648C>T
1 paper
NM_002858.4
p.D547G
c.1640A>G
1 paper
NM_002858.4
p.E530K
c.1588G>A
1 paper
NM_002858.4
p.R529Q
c.1586G>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
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