Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.F339V

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.F339V
c.1015T>G
Surrounding Variants
6 papers
NM_003042.4
p.F339L
c.1015T>C
6 papers
NM_003042.4
p.F339L
c.1017C>A
6 papers
NM_003042.4
p.F339L
c.1017C>G
2 papers
NM_003042.4
p.S340T
c.1018T>A
2 papers
NM_003042.4
p.I341V
c.1021A>G
2 papers
NM_003042.4
p.V337I
c.1009G>A
1 paper
NM_003042.4
p.V337F
c.1009G>T
18 papers
NM_003042.4
p.V342M
c.1024G>A
1 paper
NM_003042.4
p.F336fs
c.1006_1007fs
1 paper
NM_003042.4
p.G335R
c.1003G>A
1 paper
NM_003042.4
p.G335R
c.1003G>C
1 paper
NM_003042.4
p.G343C
c.1027G>T
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