Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.L247P

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.L247P
c.740T>C
Surrounding Variants
1 paper
NM_144585.4
p.T248I
c.743C>T
1 paper
NM_144585.4
p.G246S
c.736G>A
1 paper
NM_144585.4
p.H245Q
c.735T>A
1 paper
NM_144585.4
p.H245Q
c.735T>G
1 paper
NM_144585.4
p.A249D
c.746C>A
1 paper
NM_144585.4
p.A252V
c.755C>T
1 paper
NM_144585.4
p.F241L
c.723C>A
1 paper
NM_144585.4
p.F241L
c.723C>G
3 papers
NM_144585.4
p.F241Y
c.722T>A
1 paper
NM_144585.4
p.F241L
c.721T>C
1 paper
NM_144585.4
p.V255L
c.763G>C
1 paper
NM_144585.4
p.V255L
c.763G>T
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