Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G641G

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.G641G
c.1923C>T
Surrounding Variants
4 papers
NM_000033.4
p.E640K
c.1918G>A
1 paper
NM_000033.4
p.I643N
c.1928T>A
1 paper
NM_000033.4
p.I643T
c.1928T>C
1 paper
NM_000033.4
p.V639M
c.1915G>A
4 papers
NM_000033.4
p.Q645*
c.1933C>T
1 paper
NM_000033.4
p.D638H
c.1912G>C
3 papers
NM_000033.4
p.D638Y
c.1912G>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
1 paper
NM_000033.4
p.I637_E640delFs
c.1911_1920del10
1 paper
NM_000033.4
p.A646_A647insFs
c.1938_1939dupGG
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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."