Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.A186T

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.A186T
c.556G>A
Surrounding Variants
1 paper
NM_001271696.3
p.V185A
c.554T>C
1 paper
NM_001271696.3
p.N183S
c.548A>G
1 paper
NM_001271696.3
p.F161del1
c.481_482delAAA
1 paper
NM_001271696.3
p.M160_F161del1
c.480_482delAAC
1 paper
NM_001271696.3
p.P158insFs
c.472_473insC
1 paper
NM_001271696.3
p.N154insFs
c.460dupA
5 papers
NM_001271696.3
p.E208D
c.624A>T
NM_004299.6
p.E209D
c.627A>T
5 papers
NM_001271696.3
p.E208D
c.624A>C
NM_004299.6
p.E209D
c.627A>C
1 paper
NM_001271696.3
p.G215S
c.643G>A
1 paper
NM_001271696.3
p.R224S
c.672A>T
1 paper
NM_001271696.3
p.I225L
c.673A>T
1 paper
NM_001271696.3
p.G259fs
c.775_776fs
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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."