Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.N4I

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.N4I
c.11A>T
Surrounding Variants
1 paper
NM_003042.4
p.G5S
c.13G>A
1 paper
NM_003042.4
p.G5R
c.13G>C
1 paper
NM_003042.4
p.S6G
c.16A>G
1 paper
NM_003042.4
p.A2A
c.6G>C
2 papers
NM_003042.4
p.T3insFs
c.7dupA
1 paper
NM_003042.4
p.S6N
c.17G>A
1 paper
NM_003042.4
p.S6T
c.17G>C
1 paper
NM_003042.4
p.S6I
c.17G>T
1 paper
NM_003042.4
p.A2T
c.4G>A
1 paper
NM_003042.4
p.V8insFs
c.22dupG
1 paper
NM_003042.4
p.M1insFs
c.2dupT
3 papers
NM_003042.4
p.M1V
c.1A>G
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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."