Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.I369T

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.I369T
c.1106T>C
Surrounding Variants
1 paper
NM_139319.3
p.P368R
c.1103C>G
1 paper
NM_139319.3
p.L373L
c.1117T>C
11 papers
NM_139319.3
p.A374S
c.1120G>T
1 paper
NM_139319.3
p.M361T
c.1082T>C
1 paper
NM_139319.3
p.M392L
c.1174A>T
1 paper
NM_139319.3
p.N393insFs
c.1179dupC
1 paper
NM_139319.3
p.Q337H
c.1011G>C
1 paper
NM_139319.3
p.Q337H
c.1011G>T
1 paper
NM_139319.3
p.Y317Y
c.951T>C
1 paper
NM_139319.3
p.P315L
c.944C>T
1 paper
NM_139319.3
p.L314F
c.942G>C
1 paper
NM_139319.3
p.L314F
c.942G>T
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