Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.F53L

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.F53L
c.157T>C
Surrounding Variants
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.F53S
c.158T>C
1 paper
NM_003042.4
p.F53C
c.158T>G
1 paper
NM_003042.4
p.D52V
c.155A>T
1 paper
NM_003042.4
p.F53L
c.159C>A
1 paper
NM_003042.4
p.F53L
c.159C>G
7 papers
NM_003042.4
p.L54F
c.160C>T
6 papers
NM_003042.4
p.D52N
c.154G>A
1 paper
NM_003042.4
p.D52Y
c.154G>T
2 papers
NM_003042.4
p.F51Y
c.152T>A
1 paper
NM_003042.4
p.M55T
c.164T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."