Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.C319C

SLC6A3

886 papers

RefSeq Summary

This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred t...

Pfam Domains

SNFaa 60–583UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 3

HGNC Previous Symbol

DAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_001044.5
p.C319C
c.957C>T
Surrounding Variants
1 paper
NM_001044.5
p.F320L
c.958T>C
3 papers
NM_001044.5
p.C319F
c.956G>T
2 papers
NM_001044.5
p.F320L
c.960C>G
1 paper
NM_001044.5
p.F320L
c.960C>A
1 paper
NM_001044.5
p.S321A
c.961T>G
1 paper
NM_001044.5
p.V318E
c.953T>A
1 paper
NM_001044.5
p.S321F
c.962C>T
1 paper
NM_001044.5
p.L322insFs
c.965_966insC
1 paper
NM_001044.5
p.A314_L322del9
c.940_965del27
1 paper
NM_001044.5
p.V324A
c.971T>C
1 paper
NM_001044.5
p.A314A
c.942G>A
1 paper
NM_001044.5
p.G325R
c.973G>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."