Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.R44Q

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
18 papers
NM_003042.4
p.R44Q
c.131G>A
Surrounding Variants
2 papers
NM_003042.4
p.R44P
c.131G>C
15 papers
NM_003042.4
p.R44W
c.130C>T
3 papers
NM_003042.4
p.D43E
c.129C>A
3 papers
NM_003042.4
p.D43E
c.129C>G
1 paper
NM_003042.4
p.D45E
c.135C>A
1 paper
NM_003042.4
p.D45E
c.135C>G
2 papers
NM_003042.4
p.D43N
c.127G>A
2 papers
NM_003042.4
p.D43H
c.127G>C
1 paper
NM_003042.4
p.T46S
c.136A>T
2 papers
NM_003042.4
p.T46T
c.138G>A
1 paper
NM_003042.4
p.W47S
c.140G>C
1 paper
NM_003042.4
p.D40N
c.118G>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."