Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.P27S

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
3 papers
NM_003042.4
p.P27S
c.79C>T
Surrounding Variants
2 papers
NM_003042.4
p.K26N
c.78G>C
1 paper
NM_003042.4
p.D25E
c.75C>A
1 paper
NM_003042.4
p.D25E
c.75C>G
1 paper
NM_003042.4
p.N24N
c.72T>C
1 paper
NM_003042.4
p.L30*
c.89T>A
1 paper
NM_003042.4
p.L30L
c.90G>A
3 papers
NM_003042.4
p.L30F
c.90G>C
2 papers
NM_003042.4
p.L30F
c.90G>T
1 paper
NM_003042.4
p.A23T
c.67G>A
1 paper
NM_003042.4
p.A23P
c.67G>C
1 paper
NM_003042.4
p.V31delFs
c.92delT
2 papers
NM_003042.4
p.V31V
c.93G>A
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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."