Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G297A

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.G297A
c.890G>C
Surrounding Variants
2 papers
NM_003042.4
p.G297E
c.890G>A
25 papers
NM_003042.4
p.G297R
c.889G>A
1 paper
NM_003042.4
p.G297G
c.891G>A
24 papers
NM_003042.4
p.G297R
c.889G>C
1 paper
NM_003042.4
p.Y296C
c.887A>G
1 paper
NM_003042.4
p.Y296F
c.887A>T
1 paper
NM_003042.4
p.L298P
c.893T>C
1 paper
NM_003042.4
p.S295S
c.885A>C
1 paper
NM_003042.4
p.S295S
c.885A>T
1 paper
NM_003042.4
p.G299C
c.895G>T
30 papers
NM_003042.4
p.S295L
c.884C>T
11 papers
NM_003042.4
p.G299V
c.896G>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."