Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.Q397K

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.Q397K
c.1189C>A
Surrounding Variants
3 papers
NM_003042.4
p.Q397*
c.1189C>T
1 paper
NM_003042.4
p.S396R
c.1188C>A
1 paper
NM_003042.4
p.S396R
c.1188C>G
1 paper
NM_003042.4
p.S396T
c.1187G>C
1 paper
NM_003042.4
p.S396R
c.1186A>C
1 paper
NM_003042.4
p.S396C
c.1186A>T
1 paper
NM_003042.4
p.Q397_F398Splc
c.1191+1G>C
5 papers
NM_003042.4
p.Q397_F398Splc
c.1191+1G>T
1 paper
NM_003042.4
p.D395E
c.1185C>A
1 paper
NM_003042.4
p.D395E
c.1185C>G
1 paper
NM_003042.4
p.D395N
c.1183G>A
1 paper
NM_003042.4
p.Q397_F398Splc
c.1191+7G>A
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