Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3
Variant:p.V418G

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.V418G
c.1253T>G
Surrounding Variants
1 paper
NM_001098486.2
p.L389F
c.1165C>T
4 papers
NM_001098486.2
p.P378L
c.1133C>T
1 paper
NM_001098486.2
p.G375Splc
c.1123+22C>A
1 paper
NM_001098486.2
p.I370I
c.1110T>C
1 paper
NM_001098486.2
p.V367M
c.1099G>A
1 paper
NM_001098486.2
p.A337D
c.1010C>A
1 paper
NM_001098486.2
p.L334P
c.1001T>C
1 paper
NM_001098486.2
p.M430insFs
c.1289_1290insGG
1 paper
NM_001098486.2
p.R434*
c.1300A>T
2 papers
NM_001098486.2
p.S448S
c.1344T>C
1 paper
NM_001098486.2
p.V314A
c.941T>C
2 papers
NM_001098486.2
p.F304S
c.911T>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."