Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.S302S

SLC6A1

352 papers

RefSeq Summary

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presyn...

Pfam Domains

SNFaa 44–559UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 1

HGNC Alias Symbols

GAT1; GABATR; GABATHG; GAT-1; hGAT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003042.4
p.S302S
c.906C>T
Surrounding Variants
1 paper
NM_003042.4
p.S302C
c.905C>G
1 paper
NM_003042.4
p.I304I
c.912C>A
1 paper
NM_003042.4
p.I304I
c.912C>T
11 papers
NM_003042.4
p.A305T
c.913G>A
5 papers
NM_003042.4
p.A305P
c.913G>C
1 paper
NM_003042.4
p.L300V
c.898C>G
1 paper
NM_003042.4
p.A305V
c.914C>T
11 papers
NM_003042.4
p.G299V
c.896G>T
1 paper
NM_003042.4
p.G299C
c.895G>T
1 paper
NM_003042.4
p.L306L
c.918C>T
18 papers
NM_003042.4
p.G307R
c.919G>A
17 papers
NM_003042.4
p.G307R
c.919G>C
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