Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1

SLC32A1

108 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/pol...

Pfam Domains

Aa_transaa 114–513UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 32 member 1

HGNC Previous Symbol

VIAAT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
2 papers
NM_080552.3
p.G43C
c.127G>T
2 papers
NM_080552.3
p.V263M
c.787G>A
2 papers
NM_080552.3
p.V263A
c.788T>C
2 papers
NM_080552.3
p.L269P
c.806T>C
1 paper
NM_080552.3
p.M1T
c.2T>C
1 paper
NM_080552.3
p.S7G
c.19A>G
1 paper
NM_080552.3
p.V12V
c.36G>C
1 paper
NM_080552.3
p.K19N
c.57G>C
1 paper
NM_080552.3
p.K19N
c.57G>T
1 paper
NM_080552.3
p.Q34H
c.102G>C
1 paper
NM_080552.3
p.Q34H
c.102G>T
1 paper
NM_080552.3
p.D38G
c.113A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."