Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.G10A

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
1 paper
NM_014229.3
p.G10A
c.29G>C
Surrounding Variants
1 paper
NM_014229.3
p.E4K
c.10G>A
1 paper
NM_014229.3
p.M1I
c.3G>C
2 papers
NM_014229.3
p.A33V
c.98C>T
1 paper
NM_014229.3
p.R37C
c.109C>T
1 paper
NM_014229.3
p.V41I
c.121G>A
1 paper
NM_014229.3
p.E49K
c.145G>A
1 paper
NM_014229.3
p.V63G
c.188T>G
1 paper
NM_014229.3
p.Y78insFs
c.233_234ins4
1 paper
NM_014229.3
p.L79fs
c.235_236fs
1 paper
NM_014229.3
p.I97L
c.289A>C
1 paper
NM_014229.3
p.G100E
c.299G>A
1 paper
NM_014229.3
p.I101I
c.303T>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."