Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.G479R

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.G479R
c.1435G>A
Surrounding Variants
1 paper
NM_144585.4
p.G479R
c.1435G>C
1 paper
NM_144585.4
p.G478E
c.1433G>A
22 papers
NM_144585.4
p.R477H
c.1430G>A
5 papers
NM_144585.4
p.R477S
c.1429C>A
5 papers
NM_144585.4
p.A476D
c.1427C>A
1 paper
NM_144585.4
p.I481M
c.1443C>G
1 paper
NM_153378.3
p.A255V
c.764C>T
1 paper
NM_144585.4
p.G483A
c.1448G>C
1 paper
NM_144585.4
p.M474V
c.1420A>G
1 paper
NM_144585.4
p.P484A
c.1450C>G
1 paper
NM_144585.4
p.Q473R
c.1418A>G
1 paper
NM_144585.4
p.L485V
c.1453C>G
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