Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.E213A

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.E213A
c.638A>C
Surrounding Variants
1 paper
NM_080552.3
p.L220L
c.660G>T
1 paper
NM_080552.3
p.G203R
c.607G>C
1 paper
NM_080552.3
p.G202G
c.606C>T
1 paper
NM_080552.3
p.P196fs
c.586_587fs
1 paper
NM_080552.3
p.C194_T200delFs
c.582_598del17
1 paper
NM_080552.3
p.G177S
c.529G>A
1 paper
NM_080552.3
p.L251P
c.752T>C
2 papers
NM_080552.3
p.V263M
c.787G>A
2 papers
NM_080552.3
p.V263A
c.788T>C
1 paper
NM_080552.3
p.V158M
c.472G>A
2 papers
NM_080552.3
p.L269P
c.806T>C
1 paper
NM_080552.3
p.A156S
c.466G>T
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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."