Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G362R

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
23 papers
NM_003042.4
p.G362R
c.1084G>C
Surrounding Variants
24 papers
NM_003042.4
p.G362R
c.1084G>A
1 paper
NM_003042.4
p.G362W
c.1084G>T
1 paper
NM_003042.4
p.G362A
c.1085G>C
12 papers
NM_003042.4
p.P361T
c.1081C>A
1 paper
NM_003042.4
p.L363L
c.1089G>T
2 papers
NM_003042.4
p.G360Splc
c.1079-1G>A
1 paper
NM_003042.4
p.A364S
c.1090G>T
1 paper
NM_003042.4
p.A364A
c.1092G>A
1 paper
NM_003042.4
p.F365C
c.1094T>G
1 paper
NM_003042.4
p.L366V
c.1096C>G
1 paper
NM_003042.4
p.A371A
c.1113G>A
2 papers
NM_003042.4
p.Q374*
c.1120C>T
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