Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11

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
1–12 of 99 variants
4 papers
NM_014229.3
p.C524C
c.1572C>T
3 papers
NM_014229.3
p.L314Q
c.941T>A
2 papers
NM_014229.3
p.A33V
c.98C>T
2 papers
NM_014229.3
p.G111R
c.331G>A
2 papers
NM_014229.3
p.G111R
c.331G>C
2 papers
NM_014229.3
p.C316S
c.946T>A
2 papers
NM_014229.3
p.C316S
c.947G>C
2 papers
NM_014229.3
p.V415M
c.1243G>A
1 paper
NM_014229.3
p.M1I
c.3G>C
1 paper
NM_014229.3
p.E4K
c.10G>A
1 paper
NM_014229.3
p.G10A
c.29G>C
1 paper
NM_014229.3
p.R37C
c.109C>T
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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."