Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A7
Variant:p.R314S

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.R314S
c.940C>A
Surrounding Variants
1 paper
NM_020309.4
p.T352delFs
c.1054delT
1 paper
NM_020309.4
p.V376M
c.1126G>A
1 paper
NM_020309.4
p.R377H
c.1130G>A
1 paper
NM_020309.4
p.S281N
c.842G>A
1 paper
NM_020309.4
p.E280G
c.839A>G
1 paper
NM_020309.4
p.G279R
c.835G>C
1 paper
NM_020309.4
p.G279R
c.835G>A
1 paper
NM_020309.4
p.I274N
c.821T>A
1 paper
NM_020309.4
p.R271H
c.812G>A
1 paper
NM_020309.4
p.A221V
c.662C>T
1 paper
NM_020309.4
p.G384Splc
c.1151-6C>T
1 paper
NM_020309.4
p.T390M
c.1169C>T
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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."