Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.K624fs

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.K624fs
c.1870_1871fs
Surrounding Variants
1 paper
NM_000033.4
p.P623L
c.1868C>T
1 paper
NM_000033.4
p.P623T
c.1867C>A
3 papers
NM_000033.4
p.P623fs
c.1867_1868fs
1 paper
NM_000033.4
p.P623del1
c.1867_1868delCCC
25 papers
NM_000033.4
p.A626T
c.1876G>A
1 paper
NM_000033.4
p.A626P
c.1876G>C
1 paper
NM_000033.4
p.A626D
c.1877C>A
1 paper
NM_000033.4
p.L627H
c.1880T>A
2 papers
NM_000033.4
p.L628Q
c.1883T>A
2 papers
NM_000033.4
p.L628P
c.1883T>C
6 papers
NM_000033.4
p.R622Splc
c.1866-10G>A
2 papers
NM_000033.4
p.D629N
c.1885G>A
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."