Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.D278A

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.D278A
c.833A>C
Surrounding Variants
1 paper
NM_019625.4
p.F266Y
c.797T>A
1 paper
NM_019625.4
p.R262Q
c.785G>A
1 paper
NM_019625.4
p.R246_R260del15
c.736_779del45
1 paper
NM_019625.4
p.R246_R260del0
c.738_779del42
1 paper
NM_019625.4
p.A255T
c.763G>A
2 papers
NM_019625.4
p.G248S
c.742G>A
1 paper
NM_019625.4
p.R246Q
c.737G>A
1 paper
NM_019625.4
p.R246W
c.736C>T
2 papers
NM_019625.4
p.I245V
c.733A>G
1 paper
NM_019625.4
p.S239Splc
c.717-5A>G
1 paper
NM_019625.4
p.T227M
c.680C>T
1 paper
NM_019625.4
p.G215S
c.643G>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."