Home > Gene Browser > SLC17A7

SLC17A7

Synonyms
BNPI, VGLUT1
External resources
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 the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,834
Likely benign
238
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC17A7 gene.

Phenotype class
Patients in 3billion (%)

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