Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3
Variant:p.Y269C

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.Y269C
c.806A>G
Surrounding Variants
5 papers
NM_001098486.2
p.V257F
c.769G>T
6 papers
NM_001098486.2
p.G239V
c.716G>T
1 paper
NM_001098486.2
p.G238E
c.713G>A
9 papers
NM_001098486.2
p.G279R
c.835G>C
NM_006632.4
p.G201R
c.601G>C
9 papers
NM_001098486.2
p.G279R
c.835G>A
NM_006632.4
p.G201R
c.601G>A
1 paper
NM_001098486.2
p.A289T
c.865G>A
1 paper
NM_001098486.2
p.M290T
c.869T>C
1 paper
NM_001098486.2
p.L291R
c.872T>G
2 papers
NM_001098486.2
p.F304S
c.911T>C
1 paper
NM_001098486.2
p.V314A
c.941T>C
1 paper
NM_001098486.2
p.L334P
c.1001T>C
1 paper
NM_001098486.2
p.A337D
c.1010C>A
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