Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G277R

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
9 papers
NM_000033.4
p.G277R
c.829G>A
Surrounding Variants
9 papers
NM_000033.4
p.G277R
c.829G>C
7 papers
NM_000033.4
p.G277W
c.829G>T
1 paper
NM_000033.4
p.G277E
c.830G>A
1 paper
NM_000033.4
p.G277G
c.831G>T
6 papers
NM_000033.4
p.K276E
c.826A>G
2 papers
NM_000033.4
p.E278K
c.832G>A
1 paper
NM_000033.4
p.E278ins1
c.832_833insAAT
1 paper
NM_000033.4
p.E278*
c.832G>T
1 paper
NM_000033.4
p.R275Q
c.824G>A
2 papers
NM_000033.4
p.R275W
c.823C>T
2 papers
NM_000033.4
p.L279P
c.836T>C
1 paper
NM_000033.4
p.R274P
c.821G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."