Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.T518I

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.T518I
c.1553C>T
Surrounding Variants
1 paper
NM_144585.4
p.E517fs
c.1549_1550fs
1 paper
NM_144585.4
p.E517_Q519delFs
c.1549_1555del7
1 paper
NM_144585.4
p.L521F
c.1563G>T
1 paper
NM_144585.4
p.D525N
c.1573G>A
1 paper
NM_144585.4
p.D525A
c.1574A>C
1 paper
NM_144585.4
p.L510P
c.1529T>C
2 papers
NM_144585.4
p.S508N
c.1523G>A
1 paper
NM_144585.4
p.L507L
c.1521G>A
1 paper
NM_144585.4
p.D529H
c.1585G>C
1 paper
NM_144585.4
p.Q533K
c.1597C>A
3 papers
NM_144585.4
p.Q533Splc
c.1598+18C>T
1 paper
NM_144585.4
p.W495R
c.1483T>A
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