Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.E406K

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.E406K
c.1216G>A
Surrounding Variants
1 paper
NM_080552.3
p.S414C
c.1240A>T
1 paper
NM_080552.3
p.R415C
c.1243C>T
1 paper
NM_080552.3
p.P419L
c.1256C>T
1 paper
NM_080552.3
p.L386L
c.1158G>A
1 paper
NM_080552.3
p.F385L
c.1155T>A
1 paper
NM_080552.3
p.F385L
c.1155T>G
1 paper
NM_080552.3
p.F385L
c.1153T>C
1 paper
NM_080552.3
p.I384L
c.1150A>C
1 paper
NM_080552.3
p.V441I
c.1321G>A
1 paper
NM_080552.3
p.L444P
c.1331T>C
1 paper
NM_080552.3
p.L445F
c.1333C>T
1 paper
NM_080552.3
p.M446T
c.1337T>C
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