Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Y620H

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.Y620H
c.1858T>C
Surrounding Variants
1 paper
NM_000033.4
p.Y620C
c.1859A>G
1 paper
NM_000033.4
p.Y620insFs
c.1859_1860insTA
1 paper
NM_000033.4
p.F619C
c.1856T>G
1 paper
NM_000033.4
p.H621fs
c.1861_1862fs
3 papers
NM_000033.4
p.M618T
c.1853T>C
1 paper
NM_000033.4
p.M618V
c.1852A>G
43 papers
NM_000033.4
p.R617H
c.1850G>A
5 papers
NM_000033.4
p.R617L
c.1850G>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
1 paper
NM_000033.4
p.A616_R617insFs
c.1848_1849insT
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."