Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.I78V

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
5 papers
NM_139319.3
p.I78V
c.232A>G
Surrounding Variants
1 paper
NM_139319.3
p.Y76C
c.227A>G
2 papers
NM_139319.3
p.R75C
c.223C>T
1 paper
NM_139319.3
p.M81I
c.243G>A
1 paper
NM_139319.3
p.M81I
c.243G>C
1 paper
NM_139319.3
p.M81I
c.243G>T
2 papers
NM_139319.3
p.G85R
c.253G>A
1 paper
NM_139319.3
p.G71S
c.211G>A
1 paper
NM_139319.3
p.G85R
c.253G>C
1 paper
NM_139319.3
p.C67Y
c.200G>A
1 paper
NM_139319.3
p.S89F
c.266C>T
1 paper
NM_139319.3
p.D66A
c.197A>C
1 paper
NM_139319.3
p.D66N
c.196G>A
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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."