Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.A69D

ABCB9

81 papers

RefSeq Summary

The membrane-associated 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-cellula...

Pfam Domains

ABC_membraneaa 188–457UCSCABC transporter transmembrane region
ABC_tranaa 522–671UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 9

HGNC Alias Symbol

EST122234

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019625.4
p.A69D
c.206C>A
Surrounding Variants
1 paper
NM_019625.4
p.I66T
c.197T>C
1 paper
NM_019625.4
p.A73V
c.218C>T
1 paper
NM_019625.4
p.R80Q
c.239G>A
1 paper
NM_019625.4
p.S82_T87del0
c.246_260del15
1 paper
NM_019625.4
p.V89V
c.267G>C
1 paper
NM_019625.4
p.D49N
c.145G>A
1 paper
NM_019625.4
p.F92L
c.274T>C
1 paper
NM_019625.4
p.F92L
c.276C>G
1 paper
NM_019625.4
p.F92L
c.276C>A
1 paper
NM_019625.4
p.D45N
c.133G>A
1 paper
NM_019625.4
p.S28C
c.82A>T
1 paper
NM_019625.4
p.P114L
c.341C>T
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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."