Varaico: Literature-Extracted Genetic Variants

Gene:ABCD2
Variant:p.K289N

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.K289N
c.867A>C
Surrounding Variants
1 paper
NM_005164.4
p.K289N
c.867A>T
1 paper
NM_005164.4
p.R293W
c.877C>T
1 paper
NM_005164.4
p.E285D
c.855A>T
1 paper
NM_005164.4
p.E284_E285insFs
c.852_853ins4
1 paper
NM_005164.4
p.S297S
c.891G>A
1 paper
NM_005164.4
p.K280R
c.839A>G
1 paper
NM_005164.4
p.G279delFs
c.836delC
1 paper
NM_005164.4
p.A301insFs
c.901_902insC
1 paper
NM_005164.4
p.A301D
c.902C>A
1 paper
NM_005164.4
p.K277E
c.829A>G
1 paper
NM_005164.4
p.K269E
c.805A>G
1 paper
NM_005164.4
p.I254T
c.761T>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."