Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.E556K

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.E556K
c.1666G>A
Surrounding Variants
1 paper
NM_139319.3
p.G549R
c.1645G>A
1 paper
NM_139319.3
p.G549R
c.1645G>C
1 paper
NM_139319.3
p.G564R
c.1690G>A
1 paper
NM_139319.3
p.G564R
c.1690G>C
1 paper
NM_139319.3
p.G564E
c.1691G>A
1 paper
NM_139319.3
p.K545N
c.1635G>C
1 paper
NM_139319.3
p.K545N
c.1635G>T
1 paper
NM_139319.3
p.E531K
c.1591G>A
1 paper
NM_139319.3
p.D524G
c.1571A>G
1 paper
NM_139319.3
p.I523T
c.1568T>C
4 papers
NM_139319.3
p.K519E
c.1555A>G
1 paper
NM_139319.3
p.Y498C
c.1493A>G
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