Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.V138L

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
1 paper
NM_144585.4
p.V138L
c.412G>C
Surrounding Variants
13 papers
NM_144585.4
p.V138M
c.412G>A
1 paper
NM_144585.4
p.V138L
c.412G>T
1 paper
NM_144585.4
p.L137P
c.410T>C
1 paper
NM_144585.4
p.C139S
c.415T>A
1 paper
NM_144585.4
p.C139G
c.415T>G
1 paper
NM_144585.4
p.N136K
c.408C>A
1 paper
NM_144585.4
p.N136K
c.408C>G
1 paper
NM_144585.4
p.C139S
c.416G>C
1 paper
NM_144585.4
p.D140_S141insG
c.418_422ins3
1 paper
NM_144585.4
p.D140E
c.420C>G
1 paper
NM_144585.4
p.S141T
c.421T>A
1 paper
NM_144585.4
p.H142Y
c.424C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."