Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.S328S

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.S328S
c.984G>A
Surrounding Variants
1 paper
NM_003042.4
p.S328*
c.983C>A
1 paper
NM_003042.4
p.S328L
c.983C>T
1 paper
NM_003042.4
p.C329F
c.986G>T
8 papers
NM_003042.4
p.C329*
c.987C>A
1 paper
NM_003042.4
p.C329C
c.987C>T
8 papers
NM_003042.4
p.N327S
c.980A>G
2 papers
NM_003042.4
p.N327D
c.979A>G
6 papers
NM_003042.4
p.S331G
c.991A>G
2 papers
NM_003042.4
p.M332V
c.994A>G
1 paper
NM_003042.4
p.M332R
c.995T>G
1 paper
NM_003042.4
p.M332I
c.996G>A
1 paper
NM_003042.4
p.M332I
c.996G>C
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