Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.A81G

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.A81G
c.242C>G
Surrounding Variants
1 paper
NM_001271696.3
p.F77L
c.231C>A
1 paper
NM_001271696.3
p.N73insFs
c.218_219ins22
2 papers
NM_001271696.3
p.G70R
c.208G>C
2 papers
NM_001271696.3
p.G70R
c.208G>A
1 paper
NM_001271696.3
p.L61*
c.182T>A
1 paper
NM_001271696.3
p.P108_E110delFs
c.324_330del7
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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."