Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.V145M

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.V145M
c.433G>A
Surrounding Variants
1 paper
NM_014229.3
p.L151R
c.452T>G
1 paper
NM_014229.3
p.V138M
c.412G>A
1 paper
NM_014229.3
p.A152E
c.455C>A
1 paper
NM_014229.3
p.Y134H
c.400T>C
1 paper
NM_014229.3
p.G131Splc
c.392-1G>A
1 paper
NM_014229.3
p.T170_C171del1
c.509_511delCCT
1 paper
NM_014229.3
p.E174A
c.521A>C
1 paper
NM_014229.3
p.E130G
c.389A>G
1 paper
NM_014229.3
p.L128S
c.383T>C
2 papers
NM_014229.3
p.G111R
c.331G>A
2 papers
NM_014229.3
p.G111R
c.331G>C
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."