Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G11R

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
2 papers
NM_003042.4
p.G11R
c.31G>C
Surrounding Variants
2 papers
NM_003042.4
p.G11R
c.31G>A
1 paper
NM_003042.4
p.D10A
c.29A>C
1 paper
NM_003042.4
p.D10N
c.28G>A
1 paper
NM_003042.4
p.I13V
c.37A>G
1 paper
NM_003042.4
p.A9fs
c.25_26fs
3 papers
NM_003042.4
p.I13T
c.38T>C
1 paper
NM_003042.4
p.V8A
c.23T>C
1 paper
NM_003042.4
p.A9delFs
c.25delG
1 paper
NM_003042.4
p.S14T
c.40T>A
1 paper
NM_003042.4
p.K7N
c.21G>C
1 paper
NM_003042.4
p.K7N
c.21G>T
1 paper
NM_003042.4
p.V8insFs
c.22dupG
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