Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.K619R

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.K619R
c.1856A>G
Surrounding Variants
7 papers
NM_001044.5
p.K619N
c.1857G>T
8 papers
NM_001044.5
p.K619N
c.1857G>C
1 paper
NM_001044.5
p.W617*
c.1851G>A
1 paper
NM_001044.5
p.W617*
c.1850G>A
19 papers
NM_001044.5
p.R615C
c.1843C>T
1 paper
NM_001044.5
p.T613_L614Splc
c.1840-204G>A
2 papers
NM_001044.5
p.T613M
c.1838C>T
1 paper
NM_001044.5
p.T613A
c.1837A>G
1 paper
NM_001044.5
p.Q611*
c.1831C>T
1 paper
NM_001044.5
p.R610H
c.1829G>A
1 paper
NM_001044.5
p.R610C
c.1828C>T
1 paper
NM_001044.5
p.V609M
c.1825G>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."