Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.D498E

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.D498E
c.1494T>G
Surrounding Variants
1 paper
NM_014229.3
p.D498E
c.1494T>A
1 paper
NM_014229.3
p.N499D
c.1495A>G
1 paper
NM_014229.3
p.N499K
c.1497C>A
1 paper
NM_014229.3
p.N499K
c.1497C>G
1 paper
NM_014229.3
p.Y497S
c.1490A>C
1 paper
NM_014229.3
p.E501D
c.1503A>T
1 paper
NM_014229.3
p.Y506F
c.1517A>T
1 paper
NM_014229.3
p.R507P
c.1520G>C
1 paper
NM_014229.3
p.P509_L511del3
c.1525_1532del9
1 paper
NM_014229.3
p.P509_L511del0
c.1527_1532del6
4 papers
NM_014229.3
p.C524C
c.1572C>T
1 paper
NM_014229.3
p.I462I
c.1386C>A
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