Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.A310V

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.A310V
c.929C>T
Surrounding Variants
1 paper
NM_144585.4
p.K308R
c.923A>G
3 papers
NM_144585.4
p.Q312L
c.935A>T
2 papers
NM_144585.4
p.D313A
c.938A>C
1 paper
NM_144585.4
p.L315_P317del0
c.944_949del6
2 papers
NM_144585.4
p.I305S
c.914T>G
7 papers
NM_144585.4
p.E298D
c.894G>C
9 papers
NM_144585.4
p.E298D
c.894G>T
2 papers
NM_144585.4
p.Q297E
c.889C>G
13 papers
NM_144585.4
p.Q297*
c.889C>T
1 paper
NM_144585.4
p.L296delFs
c.888delG
2 papers
NM_144585.4
p.W294*
c.881G>A
1 paper
NM_144585.4
p.L292_D293del2
c.874_878del6
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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."