Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.S311A

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.S311A
c.931T>G
Surrounding Variants
2 papers
NM_003042.4
p.S311P
c.931T>C
1 paper
NM_003042.4
p.N310K
c.930C>A
1 paper
NM_003042.4
p.N310K
c.930C>G
1 paper
NM_003042.4
p.S311C
c.932C>G
2 papers
NM_003042.4
p.N310S
c.929A>G
4 papers
NM_003042.4
p.N310I
c.929A>T
1 paper
NM_003042.4
p.Y309C
c.926A>G
1 paper
NM_003042.4
p.Y309F
c.926A>T
1 paper
NM_003042.4
p.S308R
c.924C>A
1 paper
NM_003042.4
p.S308R
c.924C>G
5 papers
NM_003042.4
p.H313Q
c.939C>A
4 papers
NM_003042.4
p.H313Q
c.939C>G
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