Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.E386K

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
2 papers
NM_019625.4
p.E386K
c.1156G>A
Surrounding Variants
1 paper
NM_019625.4
p.E385K
c.1153G>A
1 paper
NM_019625.4
p.S373N
c.1118G>A
1 paper
NM_019625.4
p.Y409S
c.1226A>C
1 paper
NM_019625.4
p.E460_S461Splc
c.1380+10C>T
1 paper
NM_019625.4
p.N344N
c.1032C>T
1 paper
NM_019625.4
p.M341I
c.1023G>T
1 paper
NM_019625.4
p.M341I
c.1023G>C
1 paper
NM_019625.4
p.M341I
c.1023G>A
2 papers
NM_019625.4
p.I339V
c.1015A>G
1 paper
NM_019625.4
p.G316V
c.947G>T
1 paper
NM_019625.4
p.R309W
c.925C>T
1 paper
NM_019625.4
p.N305fs
c.913_914fs
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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."