Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.R284Q

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.R284Q
c.851G>A
Surrounding Variants
6 papers
NM_144585.4
p.R284G
c.850C>G
1 paper
NM_144585.4
p.W285*
c.854G>A
1 paper
NM_144585.4
p.W285*
c.855G>A
1 paper
NM_144585.4
p.S282L
c.845C>T
1 paper
NM_144585.4
p.S282P
c.844T>C
2 papers
NM_144585.4
p.E281K
c.841G>A
2 papers
NM_144585.4
p.G290C
c.868G>T
1 paper
NM_144585.4
p.R291W
c.871A>T
1 paper
NM_144585.4
p.L292_D293del2
c.874_878del6
2 papers
NM_144585.4
p.W294*
c.881G>A
1 paper
NM_144585.4
p.L296delFs
c.888delG
2 papers
NM_144585.4
p.Q297E
c.889C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."