Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8

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
1–12 of 113 variants
14 papers
NM_139319.3
p.A211V
c.632C>T
11 papers
NM_139319.3
p.A374S
c.1120G>T
5 papers
NM_139319.3
p.I78V
c.232A>G
5 papers
NM_139319.3
p.M206insFs
c.616dupA
5 papers
NM_139319.3
p.M206fs
c.616_617fs
4 papers
NM_139319.3
p.K519E
c.1555A>G
3 papers
NM_139319.3
p.D37N
c.109G>A
3 papers
NM_139319.3
p.T57T
c.171G>A
2 papers
NM_139319.3
p.T8I
c.23C>T
2 papers
NM_139319.3
p.P54L
c.161C>T
2 papers
NM_139319.3
p.R75C
c.223C>T
2 papers
NM_139319.3
p.G85R
c.253G>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."