Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.W47S

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.W47S
c.140G>C
Surrounding Variants
2 papers
NM_003042.4
p.T46T
c.138G>A
1 paper
NM_003042.4
p.T46S
c.136A>T
2 papers
NM_003042.4
p.K48N
c.144G>C
2 papers
NM_003042.4
p.K48N
c.144G>T
1 paper
NM_003042.4
p.D45E
c.135C>A
1 paper
NM_003042.4
p.D45E
c.135C>G
1 paper
NM_003042.4
p.R50C
c.148C>T
18 papers
NM_003042.4
p.R44Q
c.131G>A
1 paper
NM_003042.4
p.R50H
c.149G>A
2 papers
NM_003042.4
p.R44P
c.131G>C
2 papers
NM_003042.4
p.R50L
c.149G>T
15 papers
NM_003042.4
p.R44W
c.130C>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."