Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.D292A

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.D292A
c.875A>C
Surrounding Variants
2 papers
NM_019625.4
p.V296G
c.887T>G
1 paper
NM_019625.4
p.D298N
c.892G>A
1 paper
NM_019625.4
p.L299P
c.896T>C
1 paper
NM_019625.4
p.N305fs
c.913_914fs
1 paper
NM_019625.4
p.N305delFs
c.914delT
1 paper
NM_019625.4
p.R309W
c.925C>T
1 paper
NM_019625.4
p.G316V
c.947G>T
2 papers
NM_019625.4
p.I339V
c.1015A>G
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
1 paper
NM_019625.4
p.N344N
c.1032C>T
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