Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.P136R

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.P136R
c.407C>G
Surrounding Variants
3 papers
NM_001044.5
p.P136A
c.406C>G
1 paper
NM_001044.5
p.P136P
c.408C>G
1 paper
NM_001044.5
p.L138R
c.413T>G
1 paper
NM_001044.5
p.L138P
c.413T>C
1 paper
NM_001044.5
p.I134fs
c.400_401fs
4 papers
NM_001044.5
p.K133delFs
c.399delC
1 paper
NM_001044.5
p.K139Q
c.415A>C
1 paper
NM_001044.5
p.K133T
c.398A>C
1 paper
NM_001044.5
p.K133*
c.397A>T
1 paper
NM_001044.5
p.W132L
c.395G>T
1 paper
NM_001044.5
p.G140Splc
c.418+1G>A
1 paper
NM_001044.5
p.V131I
c.391G>A
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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."