Varaico: Literature-Extracted Genetic Variants

Gene:ABCB9
Variant:p.R514C

ABCB9

81 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 188–457UCSCABC transporter transmembrane region
ABC_tranaa 522–671UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 9

HGNC Alias Symbol

EST122234

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019625.4
p.R514C
c.1540C>T
Surrounding Variants
1 paper
NM_019625.4
p.V509V
c.1527G>A
1 paper
NM_019625.4
p.V504M
c.1510G>A
1 paper
NM_019625.4
p.H499L
c.1496A>T
1 paper
NM_019625.4
p.A496P
c.1486G>C
1 paper
NM_019625.4
p.L495F
c.1485G>C
1 paper
NM_019625.4
p.D484N
c.1450G>A
1 paper
NM_019624.4
p.S483C
c.1448C>G
NM_001243013.2
p.S463C
c.1388C>G
1 paper
NM_019625.4
p.G532D
c.1595G>A
1 paper
NM_019625.4
p.K545M
c.1634A>T
1 paper
NM_019625.4
p.K545N
c.1635G>T
1 paper
NM_019625.4
p.K545N
c.1635G>C
1 paper
NM_001243013.2
p.S483C
c.1447A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."