Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2
Variant:p.G201W

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.G201W
c.601G>T
Surrounding Variants
1 paper
NM_005164.4
p.D200V
c.599A>T
3 papers
NM_005164.4
p.D207H
c.619G>C
1 paper
NM_005164.4
p.T211insFs
c.631dupA
1 paper
NM_005164.4
p.T211fs
c.631_632fs
3 papers
NM_005164.4
p.T186I
c.557C>T
1 paper
NM_005164.4
p.A183T
c.547G>A
1 paper
NM_005164.4
p.A174S
c.520G>T
1 paper
NM_005164.4
p.A174T
c.520G>A
1 paper
NM_005164.4
p.T229I
c.686C>T
1 paper
NM_005164.4
p.L151L
c.453T>A
1 paper
NM_005164.4
p.I254T
c.761T>C
1 paper
NM_005164.4
p.R141Q
c.422G>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."