Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A650fs

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.A650fs
c.1948_1949fs
Surrounding Variants
3 papers
NM_000033.4
p.A650A
c.1950G>A
1 paper
NM_000033.4
p.G651S
c.1951G>A
1 paper
NM_000033.4
p.A650_T658delFs
c.1948_1973del26
1 paper
NM_000033.4
p.I652N
c.1955T>A
1 paper
NM_000033.4
p.A647T
c.1939G>A
1 paper
NM_000033.4
p.A647fs
c.1939_1940fs
1 paper
NM_000033.4
p.A646_A647insFs
c.1938_1939dupGG
1 paper
NM_000033.4
p.A646V
c.1937C>T
4 papers
NM_000033.4
p.A646P
c.1936G>C
1 paper
NM_000033.4
p.A646fs
c.1936_1937fs
2 papers
NM_000033.4
p.A646delFs
c.1937delC
9 papers
NM_000033.4
p.L654P
c.1961T>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."