Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.Q35insFs

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
11 papers
NM_003042.4
p.Q35insFs
c.104dupA
Surrounding Variants
1 paper
NM_003042.4
p.Q35H
c.105G>C
1 paper
NM_003042.4
p.V34G
c.101T>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
3 papers
NM_003042.4
p.V34L
c.100G>C
1 paper
NM_003042.4
p.V34L
c.100G>T
1 paper
NM_003042.4
p.K33K
c.99G>A
4 papers
NM_003042.4
p.K33N
c.99G>C
5 papers
NM_003042.4
p.K33N
c.99G>T
2 papers
NM_003042.4
p.K33E
c.97A>G
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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."