Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G75R

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
13 papers
NM_003042.4
p.G75R
c.223G>C
Surrounding Variants
13 papers
NM_003042.4
p.G75R
c.223G>A
1 paper
NM_003042.4
p.C74*
c.222C>A
2 papers
NM_003042.4
p.K76Q
c.226A>C
5 papers
NM_003042.4
p.K76E
c.226A>G
1 paper
NM_003042.4
p.K76N
c.228A>C
1 paper
NM_003042.4
p.K76N
c.228A>T
1 paper
NM_003042.4
p.N77D
c.229A>G
4 papers
NM_003042.4
p.L73F
c.217C>T
1 paper
NM_003042.4
p.Y72C
c.215A>G
2 papers
NM_003042.4
p.G78C
c.232G>T
1 paper
NM_003042.4
p.F70F
c.210C>T
5 papers
NM_003042.4
p.G79V
c.236G>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."