Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A6
Variant:p.S271L

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.S271L
c.812C>T
Surrounding Variants
1 paper
NM_153276.3
p.E270*
c.808G>T
1 paper
NM_153276.3
p.F268L
c.802T>C
1 paper
NM_153276.3
p.L283F
c.847C>T
1 paper
NM_153276.3
p.R290T
c.869G>C
7 papers
NM_153276.3
p.R293W
c.877C>T
1 paper
NM_153276.3
p.K297R
c.890A>G
2 papers
NM_153276.3
p.R298W
c.892C>T
1 paper
NM_153276.3
p.R298R
c.894G>T
1 paper
NM_153276.3
p.E299K
c.895G>A
2 papers
NM_153276.3
p.G301*
c.901G>T
1 paper
NM_153276.3
p.K303R
c.908A>G
2 papers
NM_153276.3
p.E307_V308Splc
c.921+33C>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."