Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.V511M

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
15 papers
NM_003042.4
p.V511M
c.1531G>A
Surrounding Variants
2 papers
NM_003042.4
p.V511G
c.1532T>G
4 papers
NM_003042.4
p.A509_G510Splc
c.1528-1G>C
1 paper
NM_003042.4
p.A509_G510Splc
c.1528-2A>T
1 paper
NM_003042.4
p.A509_G510Splc
c.1528-4C>T
1 paper
NM_003042.4
p.A509_G510Splc
c.1528-9C>T
1 paper
NM_003042.4
p.T520S
c.1558A>T
4 papers
NM_003042.4
p.T520M
c.1559C>T
1 paper
NM_003042.4
p.P521A
c.1561C>G
1 paper
NM_003042.4
p.P521P
c.1563A>G
4 papers
NM_003042.4
p.T523_M524insA
c.1567_1571ins3
1 paper
NM_003042.4
p.G525E
c.1574G>A
5 papers
NM_003042.4
p.Y527H
c.1579T>C
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