Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G608S

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.G608S
c.1822G>A
Surrounding Variants
15 papers
NM_000033.4
p.G608D
c.1823G>A
4 papers
NM_000033.4
p.G607D
c.1820G>A
21 papers
NM_000033.4
p.E609K
c.1825G>A
8 papers
NM_000033.4
p.E609G
c.1826A>G
1 paper
NM_000033.4
p.S606*
c.1817C>A
44 papers
NM_000033.4
p.S606L
c.1817C>T
2 papers
NM_000033.4
p.G607delFs
c.1820delG
1 paper
NM_000033.4
p.K610insFs
c.1828_1829insA
1 paper
NM_000033.4
p.K610E
c.1828A>G
27 papers
NM_000033.4
p.S606P
c.1816T>C
1 paper
NM_000033.4
p.S606A
c.1816T>G
3 papers
NM_000033.4
p.L605L
c.1815G>T
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."