Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2
Variant:p.K98E

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.K98E
c.292A>G
Surrounding Variants
1 paper
NM_005164.4
p.P97L
c.290C>T
1 paper
NM_005164.4
p.K98N
c.294A>T
1 paper
NM_005164.4
p.L95V
c.283T>G
1 paper
NM_005164.4
p.K93I
c.278A>T
1 paper
NM_005164.4
p.R117I
c.350G>T
1 paper
NM_005164.4
p.T69T
c.207C>T
4 papers
NM_005164.4
p.G129insFs
c.385_386insG
1 paper
NM_005164.4
p.K130E
c.388A>G
2 papers
NM_005164.4
p.I65K
c.194T>A
1 paper
NM_005164.4
p.A60A
c.180A>G
1 paper
NM_005164.4
p.P140H
c.419C>A
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."