Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.F386_S387del1

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.F386_S387del1
c.1157_1159delTCT
Surrounding Variants
8 papers
NM_003042.4
p.F385L
c.1153T>C
8 papers
NM_003042.4
p.F385L
c.1155C>A
10 papers
NM_003042.4
p.F385L
c.1155C>G
1 paper
NM_003042.4
p.W381S
c.1142G>C
1 paper
NM_003042.4
p.W381L
c.1142G>T
5 papers
NM_003042.4
p.L390_L392del0
c.1168_1176del9
2 papers
NM_003042.4
p.M388R
c.1163T>G
2 papers
NM_003042.4
p.P379L
c.1136C>T
1 paper
NM_003042.4
p.L390del1
c.1168_1169delTTG
1 paper
NM_003042.4
p.S378S
c.1134C>A
1 paper
NM_003042.4
p.I377V
c.1129A>G
1 paper
NM_003042.4
p.L375M
c.1123C>A
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