Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.G183R

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.G183R
c.547G>A
Surrounding Variants
1 paper
NM_139319.3
p.G183R
c.547G>C
1 paper
NM_139319.3
p.S176_L191del16
c.526_572del48
1 paper
NM_139319.3
p.Q192*
c.574C>T
1 paper
NM_139319.3
p.S151fs
c.451_452fs
2 papers
NM_139319.3
p.I150insFs
c.449dupT
1 paper
NM_139319.3
p.G139R
c.415G>C
1 paper
NM_139319.3
p.F137delFs
c.410delT
2 papers
NM_139319.3
p.G130D
c.389G>A
1 paper
NM_139319.3
p.A120E
c.359C>A
1 paper
NM_139319.3
p.Q118_T119Splc
c.355-4C>A
1 paper
NM_139319.3
p.E196_G197Splc
c.589-2A>C
1 paper
NM_139319.3
p.H204Q
c.612T>A
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