Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.A334T

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
8 papers
NM_003042.4
p.A334T
c.1000G>A
Surrounding Variants
15 papers
NM_003042.4
p.A334P
c.1000G>C
2 papers
NM_003042.4
p.A334S
c.1000G>T
1 paper
NM_003042.4
p.G335insFs
c.1004dupG
2 papers
NM_003042.4
p.A334A
c.1002A>G
1 paper
NM_003042.4
p.F333S
c.998T>C
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.M332I
c.996G>A
1 paper
NM_003042.4
p.M332I
c.996G>C
1 paper
NM_003042.4
p.M332I
c.996G>T
1 paper
NM_003042.4
p.M332R
c.995T>G
2 papers
NM_003042.4
p.M332V
c.994A>G
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