Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.K393R

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
2 papers
NM_144585.4
p.K393R
c.1178A>G
Surrounding Variants
1 paper
NM_144585.4
p.K393E
c.1177A>G
1 paper
NM_144585.4
p.P391R
c.1172C>G
1 paper
NM_144585.4
p.A396insFs
c.1187_1188insGG
1 paper
NM_144585.4
p.I390V
c.1168A>G
3 papers
NM_144585.4
p.V388M
c.1162G>A
2 papers
NM_144585.4
p.I385T
c.1154T>C
1 paper
NM_144585.4
p.M383K
c.1148T>A
2 papers
NM_144585.4
p.Q382Q
c.1146A>G
18 papers
NM_144585.4
p.Q382L
c.1145A>T
2 papers
NM_144585.4
p.R405G
c.1213C>G
5 papers
NM_144585.4
p.R405C
c.1213C>T
6 papers
NM_144585.4
p.R406C
c.1216C>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."