Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.A288V

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
45 papers
NM_003042.4
p.A288V
c.863C>T
Surrounding Variants
1 paper
NM_003042.4
p.A289T
c.865G>A
1 paper
NM_003042.4
p.D287A
c.860A>C
1 paper
NM_003042.4
p.D287G
c.860A>G
1 paper
NM_003042.4
p.Q291E
c.871C>G
7 papers
NM_003042.4
p.Q291*
c.871C>T
2 papers
NM_003042.4
p.W285C
c.855G>C
2 papers
NM_003042.4
p.W285C
c.855G>T
1 paper
NM_003042.4
p.W285R
c.853T>A
1 paper
NM_003042.4
p.W285R
c.853T>C
10 papers
NM_003042.4
p.F294del1
c.880_881delTTC
2 papers
NM_003042.4
p.I292T
c.875T>C
1 paper
NM_003042.4
p.I292I
c.876C>T
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