Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.E196_G197Splc

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.E196_G197Splc
c.589-2A>C
Surrounding Variants
1 paper
NM_139319.3
p.H204Q
c.612T>A
1 paper
NM_139319.3
p.H204Q
c.612T>G
5 papers
NM_139319.3
p.M206insFs
c.616dupA
5 papers
NM_139319.3
p.M206fs
c.616_617fs
1 paper
NM_139319.3
p.K209M
c.626A>T
14 papers
NM_139319.3
p.A211V
c.632C>T
1 paper
NM_139319.3
p.P212T
c.634C>A
1 paper
NM_139319.3
p.G226Splc
c.676+1G>A
1 paper
NM_139319.3
p.Q192*
c.574C>T
1 paper
NM_139319.3
p.G183R
c.547G>A
1 paper
NM_139319.3
p.G183R
c.547G>C
1 paper
NM_139319.3
p.S176_L191del16
c.526_572del48
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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."