Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.I321M

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
Selected Variant
1 paper
NM_080552.3
p.I321M
c.963C>G
Surrounding Variants
1 paper
NM_080552.3
p.F322C
c.965T>G
1 paper
NM_080552.3
p.M330T
c.989T>C
1 paper
NM_080552.3
p.Q331K
c.991C>A
1 paper
NM_080552.3
p.Q331*
c.991C>T
1 paper
NM_080552.3
p.S309C
c.926C>G
1 paper
NM_080552.3
p.L353H
c.1058T>A
1 paper
NM_080552.3
p.A283T
c.847G>A
1 paper
NM_080552.3
p.A363S
c.1087G>T
1 paper
NM_080552.3
p.I279N
c.836T>A
1 paper
NM_080552.3
p.V276I
c.826G>A
2 papers
NM_080552.3
p.L269P
c.806T>C
2 papers
NM_080552.3
p.V263A
c.788T>C
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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."