Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.L458F

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
3 papers
NM_001044.5
p.L458F
c.1372C>T
Surrounding Variants
1 paper
NM_001044.5
p.A455V
c.1364C>T
1 paper
NM_001044.5
p.A455P
c.1363G>C
1 paper
NM_001044.5
p.C463F
c.1388G>T
2 papers
NM_001044.5
p.V464I
c.1390G>A
1 paper
NM_001044.5
p.N466N
c.1398C>T
1 paper
NM_001044.5
p.N466_G467Splc
c.1398+1G>T
1 paper
NM_001044.5
p.F448C
c.1343T>G
1 paper
NM_001044.5
p.N466_G467Splc
c.1398+5G>T
1 paper
NM_001044.5
p.N466_G467Splc
c.1398+8C>A
1 paper
NM_001044.5
p.E446K
c.1336G>A
17 papers
NM_001044.5
p.R445C
c.1333C>T
1 paper
NM_001044.5
p.R445G
c.1333C>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."