Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.H755_P758delFs

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.H755_P758delFs
c.2264_2273del10
Surrounding Variants
1 paper
NM_019625.4
p.E757K
c.2269G>A
1 paper
NM_019625.4
p.H755fs
c.2263_2264fs
1 paper
NM_019625.4
p.H755fs
c.2263_2264fs
1 paper
NM_019625.4
p.Q741*
c.2221C>T
1 paper
NM_019625.4
p.A735V
c.2204C>T
1 paper
NM_019625.4
p.D714A
c.2141A>C
1 paper
NM_019625.4
p.V712L
c.2134G>T
1 paper
NM_019625.4
p.V712L
c.2134G>C
1 paper
NM_019625.4
p.R700W
c.2098C>T
1 paper
NM_019625.4
p.L680_I681Splc
c.2041-8C>T
1 paper
NM_019625.4
p.S671R
c.2013C>G
1 paper
NM_019625.4
p.S671R
c.2013C>A
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