Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9

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
1–12 of 98 variants
5 papers
NM_019625.4
p.V121M
c.361G>A
2 papers
NM_019625.4
p.G150R
c.448G>A
2 papers
NM_019625.4
p.I245V
c.733A>G
2 papers
NM_019625.4
p.G248S
c.742G>A
2 papers
NM_019625.4
p.V296G
c.887T>G
2 papers
NM_019625.4
p.I339V
c.1015A>G
2 papers
NM_019625.4
p.E386K
c.1156G>A
2 papers
NM_019625.4
p.H755_P758delFs
c.2264_2273del10
1 paper
NM_019625.4
p.D17N
c.49G>A
1 paper
NM_019625.4
p.T22M
c.65C>T
1 paper
NM_019625.4
p.S28C
c.82A>T
1 paper
NM_019625.4
p.D45N
c.133G>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."