Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.L314F

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.L314F
c.942G>C
Surrounding Variants
1 paper
NM_139319.3
p.L314F
c.942G>T
1 paper
NM_139319.3
p.P315L
c.944C>T
1 paper
NM_139319.3
p.Y317Y
c.951T>C
1 paper
NM_139319.3
p.P306_T312del0
c.917_934del18
1 paper
NM_139319.3
p.P306_T312del7
c.916_935del21
1 paper
NM_139319.3
p.S301_K302Splc
c.904-6C>A
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.S299_L300del2
c.895_899del6
2 papers
NM_139319.3
p.G292R
c.874G>A
2 papers
NM_139319.3
p.G292R
c.874G>C
1 paper
NM_139319.3
p.E282K
c.844G>A
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