Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1

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
1–12 of 790 variants
45 papers
NM_003042.4
p.A288V
c.863C>T
30 papers
NM_003042.4
p.S295L
c.884C>T
25 papers
NM_003042.4
p.G297R
c.889G>A
24 papers
NM_003042.4
p.G297R
c.889G>C
24 papers
NM_003042.4
p.G362R
c.1084G>A
23 papers
NM_003042.4
p.G362R
c.1084G>C
21 papers
NM_003042.4
p.A357V
c.1070C>T
18 papers
NM_003042.4
p.R44Q
c.131G>A
18 papers
NM_003042.4
p.G307R
c.919G>A
18 papers
NM_003042.4
p.V342M
c.1024G>A
17 papers
NM_003042.4
p.G307R
c.919G>C
17 papers
NM_003042.4
p.G550R
c.1648G>A
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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."