Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3

SLC17A3

60 papers

RefSeq Summary

The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different...

Pfam Domains

MFS_1aa 100–355UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 17 member 3

HGNC Alias Symbol

NPT4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
9 papers
NM_001098486.2
p.A100T
c.298G>A
8 papers
NM_001098486.2
p.G279R
c.835G>C
8 papers
NM_001098486.2
p.G279R
c.835G>A
6 papers
NM_001098486.2
p.G239V
c.716G>T
5 papers
NM_001098486.2
p.V257F
c.769G>T
4 papers
NM_001098486.2
p.N68H
c.202A>C
4 papers
NM_001098486.2
p.P378L
c.1133C>T
2 papers
NM_001098486.2
p.G90D
c.269G>A
2 papers
NM_001098486.2
p.F304S
c.911T>C
2 papers
NM_001098486.2
p.S448S
c.1344T>C
1 paper
NM_001098486.2
p.N16I
c.47A>T
1 paper
NM_001098486.2
p.N16N
c.48C>T
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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."