Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.V639M

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.V639M
c.1915G>A
Surrounding Variants
4 papers
NM_000033.4
p.E640K
c.1918G>A
1 paper
NM_000033.4
p.D638H
c.1912G>C
3 papers
NM_000033.4
p.D638Y
c.1912G>T
1 paper
NM_000033.4
p.I637_E640delFs
c.1911_1920del10
1 paper
NM_000033.4
p.I637delFs
c.1909delA
1 paper
NM_000033.4
p.G641G
c.1923C>T
1 paper
NM_000033.4
p.S636N
c.1907G>A
4 papers
NM_000033.4
p.S636I
c.1907G>T
1 paper
NM_000033.4
p.V635A
c.1904T>C
6 papers
NM_000033.4
p.V635M
c.1903G>A
1 paper
NM_000033.4
p.V635L
c.1903G>C
1 paper
NM_000033.4
p.V635L
c.1903G>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."