Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A7
Variant:p.G384Splc

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.G384Splc
c.1151-6C>T
Surrounding Variants
1 paper
NM_020309.4
p.T390M
c.1169C>T
1 paper
NM_020309.4
p.L393S
c.1178T>C
1 paper
NM_020309.4
p.A418T
c.1252G>A
1 paper
NM_020309.4
p.H426Y
c.1276C>T
1 paper
NM_020309.4
p.A434T
c.1300G>A
1 paper
NM_020309.4
p.S448*
c.1343C>A
1 paper
NM_020309.4
p.A458T
c.1372G>A
1 paper
NM_020309.4
p.A490A
c.1470T>G
2 papers
NM_020309.4
p.V511I
c.1531G>A
1 paper
NM_020309.4
p.V511G
c.1532T>G
1 paper
NM_020309.4
p.V511A
c.1532T>C
2 papers
NM_020309.4
p.L516M
c.1546C>A
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