Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.I83L

SLC32A1

108 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/pol...

Pfam Domains

Aa_transaa 114–513UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 32 member 1

HGNC Previous Symbol

VIAAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080552.3
p.I83L
c.247A>C
Surrounding Variants
1 paper
NM_080552.3
p.A91T
c.271G>A
1 paper
NM_080552.3
p.L93P
c.278T>C
1 paper
NM_080552.3
p.G97D
c.290G>A
1 paper
NM_080552.3
p.S98T
c.292T>A
1 paper
NM_080552.3
p.A65A
c.195C>T
1 paper
NM_080552.3
p.G103R
c.307G>A
1 paper
NM_080552.3
p.E107E
c.321A>G
1 paper
NM_080552.3
p.H46L
c.137A>T
1 paper
NM_080552.3
p.F44V
c.130T>G
2 papers
NM_080552.3
p.G43C
c.127G>T
1 paper
NM_080552.3
p.V125M
c.373G>A
1 paper
NM_080552.3
p.D38G
c.113A>G
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