Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.D52Y

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.D52Y
c.154G>T
Surrounding Variants
6 papers
NM_003042.4
p.D52N
c.154G>A
1 paper
NM_003042.4
p.D52V
c.155A>T
1 paper
NM_003042.4
p.D52E
c.156C>A
1 paper
NM_003042.4
p.D52E
c.156C>G
2 papers
NM_003042.4
p.F51Y
c.152T>A
1 paper
NM_003042.4
p.F53L
c.157T>C
2 papers
NM_003042.4
p.F53S
c.158T>C
1 paper
NM_003042.4
p.F53C
c.158T>G
1 paper
NM_003042.4
p.F53L
c.159C>A
1 paper
NM_003042.4
p.F53L
c.159C>G
1 paper
NM_003042.4
p.R50H
c.149G>A
2 papers
NM_003042.4
p.R50L
c.149G>T
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