Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G63C

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.G63C
c.187G>T
Surrounding Variants
8 papers
NM_003042.4
p.G63S
c.187G>A
1 paper
NM_003042.4
p.G63G
c.189C>A
2 papers
NM_003042.4
p.G65C
c.193G>T
2 papers
NM_003042.4
p.G65D
c.194G>A
1 paper
NM_003042.4
p.G65A
c.194G>C
1 paper
NM_003042.4
p.G65delFs
c.195delC
4 papers
NM_003042.4
p.Y60C
c.179A>G
1 paper
NM_003042.4
p.Y60F
c.179A>T
2 papers
NM_003042.4
p.N66D
c.196A>G
1 paper
NM_003042.4
p.N66fs
c.196_197fs
1 paper
NM_003042.4
p.G59A
c.176G>C
1 paper
NM_003042.4
p.V67I
c.199G>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."