Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.L220P

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.L220P
c.659T>C
Surrounding Variants
1 paper
NM_144585.4
p.L221L
c.661C>T
1 paper
NM_144585.4
p.L221Splc
c.661+1G>A
2 papers
NM_144585.4
p.T219P
c.655A>C
1 paper
NM_144585.4
p.G218S
c.652G>A
13 papers
NM_144585.4
p.T217M
c.650C>T
1 paper
NM_144585.4
p.L221Splc
c.661+11G>A
1 paper
NM_144585.4
p.V210A
c.629T>C
5 papers
NM_144585.4
p.A209V
c.626C>T
1 paper
NM_144585.4
p.L206M
c.616T>A
3 papers
NM_144585.4
p.R203C
c.607C>T
1 paper
NM_144585.4
p.L221Splc
c.662-18C>G
1 paper
NM_144585.4
p.V198G
c.593T>G
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