Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.A541V

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.A541V
c.1622C>T
Surrounding Variants
1 paper
NM_003042.4
p.L542L
c.1624C>T
1 paper
NM_003042.4
p.W538S
c.1613G>C
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.V546F
c.1636G>T
1 paper
NM_003042.4
p.L547F
c.1639C>T
1 paper
NM_003042.4
p.G535V
c.1604G>T
2 papers
NM_003042.4
p.L547R
c.1640T>G
1 paper
NM_003042.4
p.P549delFs
c.1647delC
8 papers
NM_003042.4
p.Q534*
c.1600C>T
1 paper
NM_003042.4
p.G533A
c.1598G>C
1 paper
NM_003042.4
p.P549P
c.1647C>T
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