Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.L120L

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.L120L
c.360C>G
Surrounding Variants
4 papers
NM_001044.5
p.G121S
c.361G>A
1 paper
NM_001044.5
p.G121A
c.362G>C
1 paper
NM_001044.5
p.L118L
c.354G>T
1 paper
NM_001044.5
p.F105_L118del0
c.314_352del39
1 paper
NM_001044.5
p.F123Y
c.368T>A
1 paper
NM_001044.5
p.F123L
c.369C>G
2 papers
NM_001044.5
p.E117Q
c.349G>C
1 paper
NM_001044.5
p.N124delFs
c.371delT
1 paper
NM_001044.5
p.Q122_N124del3
c.364_371del9
1 paper
NM_001044.5
p.M116L
c.346A>T
3 papers
NM_001044.5
p.M116L
c.346A>C
1 paper
NM_001044.5
p.Y115*
c.345C>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."