Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.T643S

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.T643S
c.1927A>T
Surrounding Variants
1 paper
NM_001271696.3
p.T643A
c.1927A>G
2 papers
NM_001271696.3
p.A635_T636delFs
c.1903_1907del5
2 papers
NM_001271696.3
p.I661T
c.1982T>C
1 paper
NM_001271696.3
p.R666insFs
c.1997_1998ins4
1 paper
NM_001271696.3
p.T669A
c.2005A>G
1 paper
NM_001271696.3
p.A673T
c.2017G>A
1 paper
NM_004299.6
p.D675G
c.2024A>G
1 paper
NM_001271696.3
p.E675G
c.2024A>G
1 paper
NM_001271696.3
p.G611Splc
c.1831+2T>A
1 paper
NM_004299.6
p.H589Q
c.1767T>G
1 paper
NM_004299.6
p.H589Q
c.1767T>A
1 paper
NM_001271696.3
p.G586*
c.1756G>T
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