Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R234delFs

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.R234delFs
c.702delC
Surrounding Variants
1 paper
NM_000033.4
p.R234H
c.701G>A
3 papers
NM_000033.4
p.R234C
c.700C>T
1 paper
NM_000033.4
p.R234fs
c.700_701fs
1 paper
NM_000033.4
p.S235F
c.704C>T
1 paper
NM_000033.4
p.R236_T240delFs
c.706_719del14
3 papers
NM_000033.4
p.A233T
c.697G>A
1 paper
NM_000033.4
p.R234insFs
c.700dupC
1 paper
NM_000033.4
p.R236S
c.706C>A
1 paper
NM_000033.4
p.R236_T240Fs
c.706_719delinsGFs
1 paper
NM_000033.4
p.A232V
c.695C>T
1 paper
NM_000033.4
p.A232_A233delFs
c.696_697delGG
3 papers
NM_000033.4
p.R236H
c.707G>A
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