Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.L31V

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.L31V
c.91C>G
Surrounding Variants
2 papers
NM_144585.4
p.M29V
c.85A>G
1 paper
NM_144585.4
p.I28T
c.83T>C
1 paper
NM_144585.4
p.S27P
c.79T>C
1 paper
NM_144585.4
p.S35N
c.104G>A
1 paper
NM_144585.4
p.V26L
c.76G>C
1 paper
NM_144585.4
p.L37L
c.111G>A
1 paper
NM_144585.4
p.L24M
c.70C>A
1 paper
NM_144585.4
p.A23T
c.67G>A
1 paper
NM_144585.4
p.S41L
c.122C>T
1 paper
NM_144585.4
p.A43T
c.127G>A
1 paper
NM_144585.4
p.A43A
c.129C>T
2 papers
NM_144585.4
p.Q17Q
c.51G>A
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