Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.I727L

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.I727L
c.2179A>C
Surrounding Variants
1 paper
NM_001271696.3
p.I727L
c.2179A>T
1 paper
NM_001271696.3
p.S728delFs
c.2184delG
1 paper
NM_001271696.3
p.E731D
c.2193G>T
1 paper
NM_001271696.3
p.E731D
c.2193G>C
1 paper
NM_001271696.3
p.E732G
c.2195A>G
1 paper
NM_004299.6
p.E687K
c.2059G>A
4 papers
NM_001271696.3
p.G682S
c.2044G>A
1 paper
NM_001271696.3
p.E675G
c.2024A>G
1 paper
NM_004299.6
p.D675G
c.2024A>G
1 paper
NM_001271696.3
p.A673T
c.2017G>A
1 paper
NM_001271696.3
p.T669A
c.2005A>G
1 paper
NM_001271696.3
p.R666insFs
c.1997_1998ins4
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