Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A6
Variant:p.R248C

SLC22A6

162 papers

RefSeq Summary

The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein...

Pfam Domains

Sugar_traa 110–518UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 6

HGNC Alias Symbols

ROAT1; PAHT; OAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153276.3
p.R248C
c.742C>T
Surrounding Variants
2 papers
NM_153276.3
p.A243T
c.727G>A
3 papers
NM_153276.3
p.A256V
c.767C>T
1 paper
NM_153276.3
p.G239D
c.716G>A
1 paper
NM_153276.3
p.P257fs
c.769_770fs
1 paper
NM_153276.3
p.A238T
c.712G>A
2 papers
NM_153276.3
p.F259fs
c.775_776fs
1 paper
NM_153276.3
p.F259insFs
c.777dupT
1 paper
NM_153276.3
p.F259delFs
c.777delA
1 paper
NM_153276.3
p.A260fs
c.778_779fs
1 paper
NM_153276.3
p.A260V
c.779C>T
7 papers
NM_153276.3
p.Y230F
c.689A>T
1 paper
NM_153276.3
p.G227V
c.680G>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."