Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.Y343C

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
1 paper
NM_001044.5
p.Y343C
c.1028A>G
Surrounding Variants
1 paper
NM_001044.5
p.Y343F
c.1028A>T
4 papers
NM_001044.5
p.Y343*
c.1029C>G
2 papers
NM_001044.5
p.Y343*
c.1029C>A
1 paper
NM_001044.5
p.R344insFs
c.1030_1031insT
1 paper
NM_001044.5
p.C342G
c.1024T>G
1 paper
NM_001044.5
p.R344Splc
c.1031+1G>T
3 papers
NM_001044.5
p.R344Splc
c.1031+1G>A
1 paper
NM_001044.5
p.T339I
c.1016C>T
1 paper
NM_001044.5
p.F338C
c.1013T>G
2 papers
NM_001044.5
p.N336del1
c.1006_1007delGTT
2 papers
NM_001044.5
p.Y335C
c.1004A>G
1 paper
NM_001044.5
p.S334C
c.1000A>T
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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."