Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.H47insFs

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.H47insFs
c.140_141insG
Surrounding Variants
1 paper
NM_144585.4
p.H47D
c.139C>G
1 paper
NM_144585.4
p.R48C
c.142C>T
1 paper
NM_144585.4
p.C49S
c.145T>A
1 paper
NM_144585.4
p.C49S
c.146G>C
1 paper
NM_144585.4
p.V44_P45ins3
c.132_133ins9
2 papers
NM_144585.4
p.W50fs
c.148_149fs
5 papers
NM_144585.4
p.A51delFs
c.151delG
1 paper
NM_144585.4
p.A43A
c.129C>T
1 paper
NM_144585.4
p.P52insFs
c.154dupC
1 paper
NM_144585.4
p.A43T
c.127G>A
1 paper
NM_144585.4
p.P52fs
c.154_155fs
1 paper
NM_144585.4
p.S41L
c.122C>T
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