Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.H347R

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.H347R
c.1040A>G
Surrounding Variants
1 paper
NM_003042.4
p.A346A
c.1038C>G
2 papers
NM_003042.4
p.V348V
c.1044C>T
1 paper
NM_003042.4
p.A346S
c.1036G>T
1 paper
NM_003042.4
p.T349A
c.1045A>G
1 paper
NM_003042.4
p.M345T
c.1034T>C
1 paper
NM_003042.4
p.K350N
c.1050G>C
1 paper
NM_003042.4
p.K350N
c.1050G>T
1 paper
NM_003042.4
p.G343C
c.1027G>T
1 paper
NM_003042.4
p.S352S
c.1056C>G
18 papers
NM_003042.4
p.V342M
c.1024G>A
5 papers
NM_003042.4
p.I353V
c.1057A>G
1 paper
NM_003042.4
p.I353T
c.1058T>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."