Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.R406C

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
6 papers
NM_144585.4
p.R406C
c.1216C>T
Surrounding Variants
1 paper
NM_144585.4
p.R406H
c.1217G>A
2 papers
NM_144585.4
p.R405G
c.1213C>G
5 papers
NM_144585.4
p.R405C
c.1213C>T
1 paper
NM_144585.4
p.P407S
c.1219C>T
1 paper
NM_144585.4
p.T408A
c.1222A>G
1 paper
NM_144585.4
p.T408M
c.1223C>T
1 paper
NM_144585.4
p.S412S
c.1236C>T
16 papers
NM_144585.4
p.L415_L418del0
c.1245_1253del9
1 paper
NM_144585.4
p.A396insFs
c.1187_1188insGG
1 paper
NM_144585.4
p.A416G
c.1247C>G
1 paper
NM_144585.4
p.A416V
c.1247C>T
2 papers
NM_144585.4
p.A416A
c.1248A>G
NM_001276326.2
p.A382A
c.1146A>G
NM_001276327.2
p.A308A
c.924A>G
NM_153378.3
p.A195A
c.585A>G
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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."