Varaico: Literature-Extracted Genetic Variants

Gene:ABCC10
Variant:p.R1094L

ABCC10

165 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 285–551UCSCABC transporter transmembrane region
ABC_tranaa 618–754UCSCABC transporter
ABC_membraneaa 885–1198UCSCABC transporter transmembrane region
ABC_tranaa 1263–1410UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 10

HGNC Alias Symbols

EST182763; MRP7; SIMRP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001198934.2
p.R1094L
c.3281G>T
Surrounding Variants
1 paper
NM_001198934.2
p.R1093W
c.3277C>T
1 paper
NM_001350518.2
p.S653G
c.1957A>G
1 paper
NM_001198934.2
p.R1090W
c.3268C>T
1 paper
NM_001198934.2
p.R1083H
c.3248G>A
1 paper
NM_001198934.2
p.Q1082*
c.3244C>T
1 paper
NM_001198934.2
p.G1113R
c.3337G>C
3 papers
NM_001198934.2
p.V1116M
c.3346G>A
1 paper
NM_001198934.2
p.P1072P
c.3216G>A
1 paper
NM_001198934.2
p.R1118W
c.3352C>T
1 paper
NM_001198934.2
p.W1066L
c.3197G>T
1 paper
NM_001198934.2
p.A1058V
c.3173C>T
1 paper
NM_001198934.2
p.G1055E
c.3164G>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."