Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.T520M

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
4 papers
NM_003042.4
p.T520M
c.1559C>T
Surrounding Variants
1 paper
NM_003042.4
p.T520S
c.1558A>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
2 papers
NM_003042.4
p.Y527C
c.1580A>G
1 paper
NM_003042.4
p.V528fs
c.1582_1583fs
1 paper
NM_003042.4
p.V528delFs
c.1583delT
2 papers
NM_003042.4
p.V511G
c.1532T>G
15 papers
NM_003042.4
p.V511M
c.1531G>A
5 papers
NM_003042.4
p.P530L
c.1589C>T
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