Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.A61delFs

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.A61delFs
c.183delC
Surrounding Variants
1 paper
NM_144585.4
p.Q60P
c.179A>C
1 paper
NM_144585.4
p.T58T
c.174G>A
1 paper
NM_144585.4
p.I63S
c.188T>G
1 paper
NM_144585.4
p.G65R
c.193G>C
9 papers
NM_144585.4
p.G65W
c.193G>T
1 paper
NM_144585.4
p.D55E
c.165C>A
2 papers
NM_144585.4
p.D55E
c.165C>G
1 paper
NM_144585.4
p.L67F
c.201G>C
1 paper
NM_144585.4
p.L67F
c.201G>T
1 paper
NM_144585.4
p.P52fs
c.154_155fs
1 paper
NM_144585.4
p.P52insFs
c.154dupC
2 papers
NM_144585.4
p.W50fs
c.148_149fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."