Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.W258*

SLC22A12

299 papers

RefSeq Summary

The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane p...

Pfam Domains

MFS_1aa 123–484UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 22 member 12

HGNC Alias Symbols

OAT4L; RST; URAT1; hURAT1; UAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
124 papers
NM_144585.4
p.W258*
c.774G>A
Surrounding Variants
108 papers
NM_144585.4
p.W258*
c.773G>A
2 papers
NM_144585.4
p.R256W
c.766C>T
2 papers
NM_144585.4
p.V255A
c.764T>C
1 paper
NM_144585.4
p.V255L
c.763G>C
1 paper
NM_144585.4
p.V255L
c.763G>T
5 papers
NM_144585.4
p.L263Q
c.788T>A
1 paper
NM_144585.4
p.A252V
c.755C>T
1 paper
NM_144585.4
p.V265I
c.793G>A
1 paper
NM_144585.4
p.A249D
c.746C>A
1 paper
NM_144585.4
p.T248I
c.743C>T
1 paper
NM_144585.4
p.F269S
c.806T>C
1 paper
NM_144585.4
p.L247P
c.740T>C
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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."