Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7

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
1–12 of 108 variants
19 papers
NM_001271696.3
p.V411L
c.1231G>T
19 papers
NM_001271696.3
p.V411L
c.1231G>C
14 papers
NM_001271696.3
p.I400M
c.1200T>G
12 papers
NM_001271696.3
p.E433K
c.1297G>A
4 papers
NM_001271696.3
p.E208D
c.624A>T
4 papers
NM_001271696.3
p.E208D
c.624A>C
4 papers
NM_001271696.3
p.G682S
c.2044G>A
2 papers
NM_001271696.3
p.G50E
c.149G>A
2 papers
NM_001271696.3
p.G70R
c.208G>C
2 papers
NM_001271696.3
p.G70R
c.208G>A
2 papers
NM_001271696.3
p.L272P
c.815T>C
2 papers
NM_001271696.3
p.R313Q
c.938G>A
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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."