Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.M414L

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.M414L
c.1240A>T
Surrounding Variants
1 paper
NM_001044.5
p.M414L
c.1240A>C
1 paper
NM_001044.5
p.M414K
c.1241T>A
16 papers
NM_001044.5
p.D421N
c.1261G>A
2 papers
NM_001044.5
p.D421A
c.1262A>C
18 papers
NM_001044.5
p.S405S
c.1215A>G
1 paper
NM_001044.5
p.A423T
c.1267G>A
1 paper
NM_001044.5
p.S404C
c.1211C>G
1 paper
NM_001044.5
p.S404A
c.1210T>G
1 paper
NM_001044.5
p.A423_M424Splc
c.1269+1G>T
3 papers
NM_001044.5
p.A423_M424Splc
c.1269+1G>A
1 paper
NM_001044.5
p.P402L
c.1205C>T
2 papers
NM_001044.5
p.T400M
c.1199C>T
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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."