Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.T521N

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.T521N
c.1562C>A
Surrounding Variants
1 paper
NM_080552.3
p.A523T
c.1567G>A
1 paper
NM_080552.3
p.V509V
c.1527G>A
1 paper
NM_080552.3
p.G500S
c.1498G>A
1 paper
NM_080552.3
p.V494I
c.1480G>A
1 paper
NM_080552.3
p.L468P
c.1403T>C
1 paper
NM_080552.3
p.G465S
c.1393G>A
1 paper
NM_080552.3
p.T464R
c.1391C>G
1 paper
NM_080552.3
p.S462fs
c.1384_1385fs
1 paper
NM_080552.3
p.G461D
c.1382G>A
1 paper
NM_080552.3
p.G461insFs
c.1382_1383ins19
1 paper
NM_080552.3
p.A447D
c.1340C>A
1 paper
NM_080552.3
p.M446T
c.1337T>C
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