Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G507D

ABCD1

890 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 78–352UCSCABC transporter transmembrane region 2
ABC_tranaa 490–633UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 1

HGNC Previous Symbol

ALD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000033.4
p.G507D
c.1520G>A
Surrounding Variants
1 paper
NM_000033.4
p.G507_P508insFs
c.1521_1522insC
5 papers
NM_000033.4
p.G507V
c.1520G>T
3 papers
NM_000033.4
p.G507S
c.1519G>A
1 paper
NM_000033.4
p.P508_C511del0
c.1522_1533del12
1 paper
NM_000033.4
p.P508A
c.1522C>G
1 paper
NM_000033.4
p.P508S
c.1522C>T
2 papers
NM_000033.4
p.P508L
c.1523C>T
1 paper
NM_000033.4
p.T506I
c.1517C>T
1 paper
NM_000033.4
p.T506P
c.1516A>C
1 paper
NM_000033.4
p.I505_G507Fs
c.1515_1519delinsGCAFs
1 paper
NM_000033.4
p.N509T
c.1526A>C
1 paper
NM_000033.4
p.N509S
c.1526A>G
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