Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.A195V

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.A195V
c.584C>T
Surrounding Variants
1 paper
NM_144585.4
p.A195fs
c.583_584fs
1 paper
NM_144585.4
p.A195_V198delFs
c.584_594del11
1 paper
NM_144585.4
p.V198G
c.593T>G
1 paper
NM_144585.4
p.A191P
c.571G>C
1 paper
NM_144585.4
p.A190G
c.569C>G
1 paper
NM_144585.4
p.A190delFs
c.569_570delCT
2 papers
NM_144585.4
p.T188T
c.564G>A
1 paper
NM_144585.4
p.T188M
c.563C>T
3 papers
NM_144585.4
p.R203C
c.607C>T
1 paper
NM_144585.4
p.L206M
c.616T>A
5 papers
NM_144585.4
p.A209V
c.626C>T
3 papers
NM_144585.4
p.L181V
c.541C>G
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