Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.I595V

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.I595V
c.1783A>G
Surrounding Variants
2 papers
NM_001044.5
p.P597L
c.1790C>T
1 paper
NM_001044.5
p.A592V
c.1775C>T
1 paper
NM_001044.5
p.A592S
c.1774G>T
2 papers
NM_001044.5
p.D600A
c.1799A>C
14 papers
NM_001044.5
p.E602G
c.1805A>G
2 papers
NM_001044.5
p.E602A
c.1805A>C
1 paper
NM_001044.5
p.R606K
c.1817G>A
1 paper
NM_001044.5
p.G607W
c.1819G>T
2 papers
NM_001044.5
p.G607G
c.1821G>A
1 paper
NM_001044.5
p.V609M
c.1825G>A
1 paper
NM_001044.5
p.R610C
c.1828C>T
1 paper
NM_001044.5
p.R610H
c.1829G>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."