Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.F293L

ABCB7

146 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 111–385UCSCABC transporter transmembrane region
ABC_tranaa 449–598UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 7

HGNC Previous Symbol

ABC7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271696.3
p.F293L
c.879T>G
Surrounding Variants
1 paper
NM_001271696.3
p.Q292R
c.875A>G
1 paper
NM_001271696.3
p.A291T
c.871G>A
1 paper
NM_001271696.3
p.G290insFs
c.868_869insT
1 paper
NM_001271696.3
p.T300T
c.900A>G
1 paper
NM_001271696.3
p.Y304H
c.910T>C
1 paper
NM_001271696.3
p.V311V
c.933C>G
2 papers
NM_001271696.3
p.R313Q
c.938G>A
2 papers
NM_001271696.3
p.W314*
c.941G>A
2 papers
NM_001271696.3
p.R315G
c.943A>G
1 paper
NM_001271696.3
p.F318Y
c.953T>A
2 papers
NM_001271696.3
p.A329T
c.985G>A
1 paper
NM_001271696.3
p.K324_G330del7
c.970_989del21
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