Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.L188F

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.L188F
c.562C>T
Surrounding Variants
1 paper
NM_019625.4
p.A191A
c.573C>T
1 paper
NM_019625.4
p.L174P
c.521T>C
1 paper
NM_019625.4
p.A169S
c.505G>T
1 paper
NM_019625.4
p.G157G
c.471C>T
2 papers
NM_019625.4
p.G150R
c.448G>A
1 paper
NM_019625.4
p.A146V
c.437C>T
1 paper
NM_019625.4
p.V140M
c.418G>A
1 paper
NM_019625.4
p.S138C
c.413C>G
1 paper
NM_019625.4
p.W135*
c.404G>A
1 paper
NM_019625.4
p.V121L
c.361G>T
1 paper
NM_019625.4
p.V121L
c.361G>C
5 papers
NM_019625.4
p.V121M
c.361G>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."