Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.F294C

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.F294C
c.881T>G
Surrounding Variants
1 paper
NM_003042.4
p.F294Y
c.881T>A
1 paper
NM_003042.4
p.F294I
c.880T>A
1 paper
NM_003042.4
p.S295T
c.883T>A
3 papers
NM_003042.4
p.S295A
c.883T>G
30 papers
NM_003042.4
p.S295L
c.884C>T
2 papers
NM_003042.4
p.F293C
c.878T>G
1 paper
NM_003042.4
p.S295S
c.885A>C
1 paper
NM_003042.4
p.S295S
c.885A>T
1 paper
NM_003042.4
p.I292I
c.876C>T
1 paper
NM_003042.4
p.Y296C
c.887A>G
1 paper
NM_003042.4
p.Y296F
c.887A>T
2 papers
NM_003042.4
p.I292T
c.875T>C
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