Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.P76L

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.P76L
c.227C>T
Surrounding Variants
1 paper
NM_002858.4
p.I73V
c.217A>G
1 paper
NM_002858.4
p.Q69*
c.205C>T
3 papers
NM_002858.4
p.E55K
c.163G>A
1 paper
NM_002858.4
p.K54fs
c.160_161fs
1 paper
NM_002858.4
p.K54delFs
c.161delA
2 papers
NM_002858.4
p.G52V
c.155G>T
1 paper
NM_002858.4
p.E51Q
c.151G>C
1 paper
NM_002858.4
p.E49_K50Splc
c.148-6A>G
1 paper
NM_002858.4
p.E82_T83Splc
c.247-20C>G
2 papers
NM_002858.4
p.L88F
c.262C>T
1 paper
NM_002858.4
p.M92I
c.276G>A
1 paper
NM_002858.4
p.M92I
c.276G>C
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