Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.L314Q

SLC6A11

127 papers

RefSeq Summary

The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this g...

Pfam Domains

SNFaa 50–576UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 11

HGNC Alias Symbol

GAT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014229.3
p.L314Q
c.941T>A
Surrounding Variants
1 paper
NM_014229.3
p.L314M
c.940C>A
2 papers
NM_014229.3
p.C316S
c.946T>A
2 papers
NM_014229.3
p.C316S
c.947G>C
1 paper
NM_014229.3
p.Y310H
c.928T>C
1 paper
NM_014229.3
p.S309F
c.926C>T
1 paper
NM_014229.3
p.A319V
c.956C>T
1 paper
NM_014229.3
p.N327H
c.979A>C
1 paper
NM_014229.3
p.D301E
c.903T>A
1 paper
NM_014229.3
p.N327S
c.980A>G
1 paper
NM_014229.3
p.N329Y
c.985A>T
1 paper
NM_014229.3
p.R332K
c.995G>A
1 paper
NM_014229.3
p.G343D
c.1028G>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."