Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A7
Variant:p.R47Q

SLC17A7

117 papers

RefSeq Summary

The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with...

Pfam Domains

MFS_1aa 68–449UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 17 member 7

HGNC Alias Symbols

BNPI; VGLUT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020309.4
p.R47Q
c.140G>A
Surrounding Variants
1 paper
NM_020309.4
p.G58insFs
c.173_174insC
1 paper
NM_020309.4
p.R62H
c.185G>A
1 paper
NM_020309.4
p.E24E
c.72G>A
1 paper
NM_020309.4
p.G70D
c.209G>A
1 paper
NM_020309.4
p.S89F
c.266C>T
1 paper
NM_020309.4
p.T96I
c.287C>T
1 paper
NM_020309.4
p.R98H
c.293G>A
1 paper
NM_020309.4
p.L118L
c.354C>T
1 paper
NM_020309.4
p.H120Q
c.360C>A
1 paper
NM_020309.4
p.F123L
c.367T>C
1 paper
NM_020309.4
p.F123L
c.369T>G
1 paper
NM_020309.4
p.F123L
c.369T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."