Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.Q382L

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
18 papers
NM_144585.4
p.Q382L
c.1145A>T
Surrounding Variants
2 papers
NM_144585.4
p.Q382Q
c.1146A>G
1 paper
NM_144585.4
p.M383K
c.1148T>A
1 paper
NM_144585.4
p.L380L
c.1138C>T
1 paper
NM_144585.4
p.F379L
c.1137C>A
3 papers
NM_144585.4
p.F379L
c.1137C>G
2 papers
NM_144585.4
p.I385T
c.1154T>C
1 paper
NM_144585.4
p.F379L
c.1135T>C
1 paper
NM_144585.4
p.N377I
c.1130A>T
3 papers
NM_144585.4
p.V388M
c.1162G>A
1 paper
NM_144585.4
p.I390V
c.1168A>G
1 paper
NM_144585.4
p.P391R
c.1172C>G
1 paper
NM_144585.4
p.K393E
c.1177A>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."