Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.P453S

ABCD4

163 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 27–294UCSCABC transporter transmembrane region 2
ABC_tranaa 404–552UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 4

HGNC Previous Symbol

PXMP1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005050.4
p.P453S
c.1357C>T
Surrounding Variants
1 paper
NM_005050.4
p.T449M
c.1346C>T
1 paper
NM_005050.4
p.F458S
c.1373T>C
1 paper
NM_005050.4
p.V445M
c.1333G>A
1 paper
NM_005050.4
p.G443C
c.1327G>T
6 papers
NM_005050.4
p.R471W
c.1411C>T
1 paper
NM_005050.4
p.G443Splc
c.1327+1G>A
1 paper
NM_005050.4
p.G443C
c.1327G>T
1 paper
NM_005050.4
p.T439S
c.1315A>T
8 papers
NM_005050.4
p.R432Q
c.1295G>A
1 paper
NM_005050.4
p.R432W
c.1294C>T
1 paper
NM_005050.4
p.G426A
c.1277G>C
1 paper
NM_005050.4
p.G421A
c.1262G>C
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