Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.W538S

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
1 paper
NM_003042.4
p.W538S
c.1613G>C
Surrounding Variants
1 paper
NM_003042.4
p.W538L
c.1613G>T
1 paper
NM_003042.4
p.V536V
c.1608G>A
1 paper
NM_003042.4
p.A541V
c.1622C>T
1 paper
NM_003042.4
p.G535V
c.1604G>T
1 paper
NM_003042.4
p.L542L
c.1624C>T
8 papers
NM_003042.4
p.Q534*
c.1600C>T
1 paper
NM_003042.4
p.G533A
c.1598G>C
2 papers
NM_003042.4
p.G533R
c.1597G>C
6 papers
NM_003042.4
p.W532*
c.1596G>A
6 papers
NM_003042.4
p.W532*
c.1595G>A
1 paper
NM_003042.4
p.V546F
c.1636G>T
5 papers
NM_003042.4
p.P530L
c.1589C>T
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