Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A4
Variant:p.D13V

SLC17A4

44 papers

RefSeq Summary

Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excr...

Pfam Domains

MFS_1aa 43–389UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 17 member 4

HGNC Alias Symbol

KIAA2138

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005495.3
p.D13V
c.38A>T
Surrounding Variants
1 paper
NM_005495.3
p.V11G
c.32T>G
1 paper
NM_005495.3
p.D13insFs
c.37dupG
1 paper
NM_005495.3
p.N21S
c.62A>G
1 paper
NM_005495.3
p.T3S
c.8C>G
1 paper
NM_005495.3
p.T3S
c.7A>T
1 paper
NM_005495.3
p.R36*
c.106C>T
1 paper
NM_005495.3
p.I42I
c.126C>A
1 paper
NM_005495.3
p.Q53H
c.159A>C
1 paper
NM_005495.3
p.Q53H
c.159A>T
1 paper
NM_005495.3
p.N75S
c.224A>G
1 paper
NM_005495.3
p.N75I
c.224A>T
1 paper
NM_005495.3
p.L93V
c.277C>G
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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."