Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.F430V

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.F430V
c.1288T>G
Surrounding Variants
1 paper
NM_014229.3
p.R431W
c.1291C>T
1 paper
NM_014229.3
p.R431L
c.1292G>T
1 paper
NM_014229.3
p.R435R
c.1303C>A
1 paper
NM_014229.3
p.A421T
c.1261G>A
2 papers
NM_014229.3
p.V415M
c.1243G>A
1 paper
NM_014229.3
p.P393L
c.1178C>T
1 paper
NM_014229.3
p.P390S
c.1168C>T
1 paper
NM_014229.3
p.G459G
c.1377C>T
1 paper
NM_014229.3
p.I462I
c.1386C>A
1 paper
NM_014229.3
p.Y497S
c.1490A>C
1 paper
NM_014229.3
p.D498E
c.1494T>A
1 paper
NM_014229.3
p.D498E
c.1494T>G
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