Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.F531L

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.F531L
c.1593C>G
Surrounding Variants
1 paper
NM_014229.3
p.F531L
c.1593C>A
1 paper
NM_014229.3
p.F531L
c.1591T>C
1 paper
NM_014229.3
p.G526G
c.1578G>A
1 paper
NM_014229.3
p.K539E
c.1615A>G
1 paper
NM_014229.3
p.G550R
c.1648G>C
1 paper
NM_014229.3
p.P566Q
c.1697C>A
1 paper
NM_014229.3
p.T572I
c.1715C>T
1 paper
NM_014229.3
p.T579T
c.1737A>G
4 papers
NM_014229.3
p.C524C
c.1572C>T
1 paper
NM_014229.3
p.P509_L511del0
c.1527_1532del6
1 paper
NM_014229.3
p.P509_L511del3
c.1525_1532del9
1 paper
NM_014229.3
p.R507P
c.1520G>C
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