Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.R169W

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.R169W
c.505A>T
Surrounding Variants
1 paper
NM_144585.4
p.D168D
c.504C>T
13 papers
NM_144585.4
p.R169Splc
c.506+1G>A
1 paper
NM_144585.4
p.R169Splc
c.506+1G>T
9 papers
NM_144585.4
p.G164S
c.490G>A
1 paper
NM_144585.4
p.C163W
c.489C>G
1 paper
NM_144585.4
p.C163Y
c.488G>A
1 paper
NM_144585.4
p.A162A
c.486G>A
1 paper
NM_144585.4
p.A162E
c.485C>A
1 paper
NM_144585.4
p.A160A
c.480T>C
1 paper
NM_144585.4
p.G159E
c.476G>A
1 paper
NM_144585.4
p.V158M
c.472G>A
1 paper
NM_144585.4
p.R169Splc
c.506+32T>C
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