Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.D40N

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.D40N
c.118G>A
Surrounding Variants
1 paper
NM_003042.4
p.A39E
c.116C>A
1 paper
NM_003042.4
p.A38A
c.114G>A
1 paper
NM_003042.4
p.A38V
c.113C>T
2 papers
NM_003042.4
p.D43N
c.127G>A
2 papers
NM_003042.4
p.D43H
c.127G>C
3 papers
NM_003042.4
p.D43E
c.129C>A
3 papers
NM_003042.4
p.D43E
c.129C>G
2 papers
NM_003042.4
p.K36fs
c.106_107fs
1 paper
NM_003042.4
p.K36E
c.106A>G
2 papers
NM_003042.4
p.K36*
c.106A>T
5 papers
NM_003042.4
p.K36fs
c.106_107fs
15 papers
NM_003042.4
p.R44W
c.130C>T
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."