Varaico: Literature-Extracted Genetic Variants

Gene:ABCC11
Variant:p.P279R

ABCC11

239 papers

RefSeq Summary

The 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-cellular membranes. ABC gen...

Pfam Domains

ABC_membraneaa 163–431UCSCABC transporter transmembrane region
ABC_tranaa 527–662UCSCABC transporter
ABC_membraneaa 806–1092UCSCABC transporter transmembrane region
ABC_tranaa 1158–1306UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 11

HGNC Alias Symbol

MRP8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370497.1
p.P279R
c.836C>G
Surrounding Variants
3 papers
NM_001370497.1
p.P279L
c.836C>T
1 paper
NM_001370497.1
p.P279H
c.836C>A
1 paper
NM_001370497.1
p.G274W
c.820G>T
1 paper
NM_001370497.1
p.E273Q
c.817G>C
1 paper
NM_001370497.1
p.E273K
c.817G>A
1 paper
NM_001370497.1
p.A286T
c.856G>A
1 paper
NM_001370497.1
p.Y270C
c.809A>G
1 paper
NM_001370497.1
p.V289A
c.866T>C
1 paper
NM_001370497.1
p.G266C
c.796G>T
1 paper
NM_001370497.1
p.P315P
c.945A>G
1 paper
NM_001370497.1
p.A317V
c.950C>T
8 papers
NM_001370497.1
p.A317E
c.950C>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."