Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.I657del1

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
3 papers
NM_000033.4
p.I657del1
c.1969_1970delATC
Surrounding Variants
1 paper
NM_000033.4
p.S656F
c.1967C>T
1 paper
NM_000033.4
p.S656P
c.1966T>C
1 paper
NM_000033.4
p.L655P
c.1964T>C
1 paper
NM_000033.4
p.I657T
c.1970T>C
1 paper
NM_000033.4
p.T658_R660del3
c.1972_1979del9
1 paper
NM_000033.4
p.S656insFs
c.1966_1967dupTC
2 papers
NM_000033.4
p.T658I
c.1973C>T
9 papers
NM_000033.4
p.L654P
c.1961T>C
1 paper
NM_000033.4
p.H659Y
c.1975C>T
1 paper
NM_000033.4
p.H659P
c.1976A>C
37 papers
NM_000033.4
p.R660W
c.1978C>T
4 papers
NM_000033.4
p.R660Q
c.1979G>A
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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."