Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.G550R

SLC6A1

352 papers

RefSeq Summary

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presyn...

Pfam Domains

SNFaa 44–559UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 1

HGNC Alias Symbols

GAT1; GABATR; GABATHG; GAT-1; hGAT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_003042.4
p.G550R
c.1648G>A
Surrounding Variants
16 papers
NM_003042.4
p.G550R
c.1648G>C
1 paper
NM_003042.4
p.P549P
c.1647C>T
1 paper
NM_003042.4
p.Y551fs
c.1651_1652fs
1 paper
NM_003042.4
p.P549delFs
c.1647delC
1 paper
NM_003042.4
p.M552T
c.1655T>C
2 papers
NM_003042.4
p.M552I
c.1656G>A
2 papers
NM_003042.4
p.M552I
c.1656G>C
2 papers
NM_003042.4
p.M552I
c.1656G>T
2 papers
NM_003042.4
p.L547R
c.1640T>G
1 paper
NM_003042.4
p.L547F
c.1639C>T
2 papers
NM_003042.4
p.A553T
c.1657G>A
1 paper
NM_003042.4
p.A553D
c.1658C>A
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