Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A7
Variant:p.F123L

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.F123L
c.367T>C
Surrounding Variants
1 paper
NM_020309.4
p.F123L
c.369T>G
1 paper
NM_020309.4
p.F123L
c.369T>A
1 paper
NM_020309.4
p.H120Q
c.360C>A
1 paper
NM_020309.4
p.L118L
c.354C>T
1 paper
NM_020309.4
p.I128T
c.383T>C
1 paper
NM_020309.4
p.V129I
c.385G>A
1 paper
NM_020309.4
p.P133P
c.399A>G
1 paper
NM_020309.4
p.K140*
c.418A>T
1 paper
NM_020309.4
p.R176K
c.527G>A
1 paper
NM_020309.4
p.E183K
c.547G>A
1 paper
NM_020309.4
p.E183V
c.548A>T
1 paper
NM_020309.4
p.E183G
c.548A>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."