Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.P387S

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.P387S
c.1159C>T
Surrounding Variants
1 paper
NM_001044.5
p.P387L
c.1160C>T
1 paper
NM_001044.5
p.G386A
c.1157G>C
1 paper
NM_001044.5
p.G386E
c.1157G>A
9 papers
NM_001044.5
p.G386R
c.1156G>C
9 papers
NM_001044.5
p.G386R
c.1156G>A
1 paper
NM_001044.5
p.I390L
c.1168A>C
1 paper
NM_001044.5
p.I392T
c.1175T>C
1 paper
NM_001044.5
p.Y394F
c.1181A>T
19 papers
NM_001044.5
p.P395L
c.1184C>T
1 paper
NM_001044.5
p.E396Q
c.1186G>C
1 paper
NM_001044.5
p.E396K
c.1186G>A
1 paper
NM_001044.5
p.A397T
c.1189G>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."