Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.E437A

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
2 papers
NM_001044.5
p.E437A
c.1310A>C
Surrounding Variants
5 papers
NM_001044.5
p.D436A
c.1307A>C
2 papers
NM_001044.5
p.D436N
c.1306G>A
5 papers
NM_001044.5
p.Q439*
c.1315C>T
1 paper
NM_001044.5
p.G433insFs
c.1297dupG
3 papers
NM_001044.5
p.G433R
c.1297G>C
3 papers
NM_001044.5
p.G433R
c.1297G>A
1 paper
NM_001044.5
p.R443K
c.1328G>A
1 paper
NM_001044.5
p.H442delFs
c.1325_1326delGT
1 paper
NM_001044.5
p.G426_V430del0
c.1277_1288del12
17 papers
NM_001044.5
p.R445C
c.1333C>T
1 paper
NM_001044.5
p.R445G
c.1333C>G
1 paper
NM_001044.5
p.S429S
c.1287A>G
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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."