Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.W96*

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.W96*
c.288G>A
Surrounding Variants
1 paper
NM_144585.4
p.Q97K
c.289C>A
1 paper
NM_144585.4
p.Q97delFs
c.291delG
1 paper
NM_144585.4
p.L98delFs
c.292_293delCT
1 paper
NM_144585.4
p.L98V
c.292C>G
1 paper
NM_144585.4
p.L98F
c.292C>T
1 paper
NM_144585.4
p.P94L
c.281C>T
1 paper
NM_144585.4
p.Q93R
c.278A>G
1 paper
NM_144585.4
p.Q93*
c.277C>T
4 papers
NM_144585.4
p.R92C
c.274C>T
2 papers
NM_144585.4
p.N102S
c.305A>G
66 papers
NM_144585.4
p.R90H
c.269G>A
1 paper
NM_144585.4
p.R90S
c.268C>A
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