Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.W285R

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.W285R
c.853T>C
Surrounding Variants
1 paper
NM_003042.4
p.W285R
c.853T>A
2 papers
NM_003042.4
p.W285C
c.855G>C
2 papers
NM_003042.4
p.W285C
c.855G>T
1 paper
NM_003042.4
p.V284M
c.850G>A
5 papers
NM_003042.4
p.E283_V284Splc
c.850-1G>T
6 papers
NM_003042.4
p.E283_V284Splc
c.850-2A>G
1 paper
NM_003042.4
p.D287A
c.860A>C
1 paper
NM_003042.4
p.E283_V284Splc
c.850-4A>G
1 paper
NM_003042.4
p.D287G
c.860A>G
1 paper
NM_003042.4
p.E283_V284Splc
c.850-5T>A
45 papers
NM_003042.4
p.A288V
c.863C>T
1 paper
NM_003042.4
p.A289T
c.865G>A
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."