Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2

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
1–12 of 104 variants
4 papers
NM_005164.4
p.A9G
c.26C>G
4 papers
NM_005164.4
p.G129insFs
c.385_386insG
3 papers
NM_005164.4
p.T186I
c.557C>T
3 papers
NM_005164.4
p.D207H
c.619G>C
2 papers
NM_005164.4
p.A23fs
c.67_68fs
2 papers
NM_005164.4
p.A23_A28delFs
c.67_83del17
2 papers
NM_005164.4
p.I65K
c.194T>A
2 papers
NM_005164.4
p.E686Q
c.2056G>C
1 paper
NM_005164.4
p.M1I
c.3G>A
1 paper
NM_005164.4
p.N6fs
c.16_17fs
1 paper
NM_005164.4
p.N6del1
c.16_18delATT
1 paper
NM_005164.4
p.K13T
c.38A>C
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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."