Varaico: Literature-Extracted Genetic Variants

Gene:ABCC10
Variant:p.R1281H

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
3 papers
NM_001198934.2
p.R1281H
c.3842G>A
Surrounding Variants
1 paper
NM_001198934.2
p.S1288P
c.3862T>C
1 paper
NM_001198934.2
p.L1291S
c.3872T>C
1 paper
NM_001198934.2
p.F1268L
c.3804C>A
1 paper
NM_001198934.2
p.F1268L
c.3804C>G
1 paper
NM_001198934.2
p.F1268L
c.3802T>C
1 paper
NM_001198934.2
p.R1295W
c.3883C>T
1 paper
NM_001198934.2
p.T1267I
c.3800C>T
1 paper
NM_001198934.2
p.R1295Q
c.3884G>A
1 paper
NM_001198934.2
p.P1299L
c.3896C>T
1 paper
NM_001198934.2
p.N1261S
c.3782A>G
1 paper
NM_001198934.2
p.R1303*
c.3907C>T
1 paper
NM_001198934.2
p.P1257P
c.3771A>T
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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."