Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2
Variant:p.L720V

ABCD2

113 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 91–365UCSCABC transporter transmembrane region 2
ABC_tranaa 494–637UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 2

HGNC Previous Symbol

ALDL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005164.4
p.L720V
c.2158C>G
Surrounding Variants
1 paper
NM_005164.4
p.T695K
c.2084C>A
1 paper
NM_005164.4
p.L694S
c.2081T>C
2 papers
NM_005164.4
p.E686Q
c.2056G>C
1 paper
NM_005164.4
p.G679C
c.2035G>T
1 paper
NM_005164.4
p.K669R
c.2006A>G
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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."