Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3
Variant:p.A42A

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
Selected Variant
1 paper
NM_001098486.2
p.A42A
c.126C>G
Surrounding Variants
1 paper
NM_001098486.2
p.S36C
c.107C>G
1 paper
NM_001098486.2
p.C35S
c.104G>C
1 paper
NM_001098486.2
p.F50Y
c.149T>A
1 paper
NM_001098486.2
p.C35S
c.103T>A
1 paper
NM_001098486.2
p.T52M
c.155C>T
4 papers
NM_001098486.2
p.N68H
c.202A>C
1 paper
NM_001098486.2
p.Q75L
c.224A>T
1 paper
NM_001098486.2
p.L76P
c.227T>C
1 paper
NM_001098486.2
p.S80P
c.238T>C
2 papers
NM_001098486.2
p.G90D
c.269G>A
1 paper
NM_001098486.2
p.K96M
c.287A>T
9 papers
NM_001098486.2
p.A100T
c.298G>A
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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."