Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.E19V

SLC17A8

114 papers

RefSeq Summary

This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in th...

Pfam Domains

MFS_1aa 81–465UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 17 member 8

HGNC Previous Symbol

DFNA25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139319.3
p.E19V
c.56A>T
Surrounding Variants
1 paper
NM_139319.3
p.I13T
c.38T>C
1 paper
NM_139319.3
p.E11Q
c.31G>C
1 paper
NM_139319.3
p.L29M
c.85T>A
2 papers
NM_139319.3
p.T8I
c.23C>T
1 paper
NM_139319.3
p.R34Splc
c.101+1G>A
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