Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.P79P

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.P79P
c.237G>A
Surrounding Variants
1 paper
NM_144585.4
p.P79L
c.236C>T
3 papers
NM_144585.4
p.P78L
c.233C>T
1 paper
NM_144585.4
p.P78T
c.232C>A
10 papers
NM_144585.4
p.N82N
c.246C>T
1 paper
NM_144585.4
p.S76Y
c.227C>A
6 papers
NM_144585.4
p.I75T
c.224T>C
1 paper
NM_144585.4
p.R84K
c.251G>A
1 paper
NM_144585.4
p.P85R
c.254C>G
2 papers
NM_144585.4
p.A74T
c.220G>A
1 paper
NM_144585.4
p.L73L
c.219G>A
12 papers
NM_144585.4
p.H86H
c.258C>T
2 papers
NM_144585.4
p.C88R
c.262T>C
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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."