Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A616insFs

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
1 paper
NM_000033.4
p.A616insFs
c.1847_1848insT
Surrounding Variants
1 paper
NM_000033.4
p.A616G
c.1847C>G
7 papers
NM_000033.4
p.A616V
c.1847C>T
1 paper
NM_000033.4
p.A616_R617insFs
c.1848_1849insT
4 papers
NM_000033.4
p.A616T
c.1846G>A
1 paper
NM_000033.4
p.A616S
c.1846G>T
5 papers
NM_000033.4
p.R617S
c.1849C>A
13 papers
NM_000033.4
p.R617G
c.1849C>G
30 papers
NM_000033.4
p.R617C
c.1849C>T
43 papers
NM_000033.4
p.R617H
c.1850G>A
5 papers
NM_000033.4
p.R617L
c.1850G>T
1 paper
NM_000033.4
p.M615fs
c.1843_1844fs
1 paper
NM_000033.4
p.M618V
c.1852A>G
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