Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.Q297*

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
13 papers
NM_144585.4
p.Q297*
c.889C>T
Surrounding Variants
2 papers
NM_144585.4
p.Q297E
c.889C>G
1 paper
NM_144585.4
p.L296delFs
c.888delG
7 papers
NM_144585.4
p.E298D
c.894G>C
9 papers
NM_144585.4
p.E298D
c.894G>T
2 papers
NM_144585.4
p.W294*
c.881G>A
1 paper
NM_144585.4
p.L292_D293del2
c.874_878del6
1 paper
NM_144585.4
p.R291W
c.871A>T
2 papers
NM_144585.4
p.G290C
c.868G>T
2 papers
NM_144585.4
p.I305S
c.914T>G
1 paper
NM_144585.4
p.K308R
c.923A>G
1 paper
NM_144585.4
p.W285*
c.855G>A
1 paper
NM_144585.4
p.W285*
c.854G>A
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