Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.V233V

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.V233V
c.699G>A
Surrounding Variants
1 paper
NM_144585.4
p.V233G
c.698T>G
1 paper
NM_144585.4
p.M234R
c.701T>G
1 paper
NM_144585.4
p.T235S
c.703A>T
1 paper
NM_144585.4
p.T235S
c.704C>G
1 paper
NM_144585.4
p.R230Q
c.689G>A
1 paper
NM_144585.4
p.A229P
c.685G>C
3 papers
NM_144585.4
p.A227insFs
c.680_681insG
3 papers
NM_144585.4
p.A227T
c.679G>A
2 papers
NM_144585.4
p.A226V
c.677C>T
1 paper
NM_144585.4
p.F241L
c.721T>C
3 papers
NM_144585.4
p.F241Y
c.722T>A
1 paper
NM_144585.4
p.F241L
c.723C>A
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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."