Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.M427L

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.M427L
c.1279A>T
Surrounding Variants
1 paper
NM_001044.5
p.M427L
c.1279A>C
1 paper
NM_001044.5
p.G426A
c.1277G>C
2 papers
NM_001044.5
p.E428Q
c.1282G>C
1 paper
NM_001044.5
p.E428A
c.1283A>C
1 paper
NM_001044.5
p.G425A
c.1274G>C
1 paper
NM_001044.5
p.M424I
c.1272G>T
1 paper
NM_001044.5
p.M424I
c.1272G>C
1 paper
NM_001044.5
p.M424I
c.1272G>A
1 paper
NM_001044.5
p.S429S
c.1287A>G
1 paper
NM_001044.5
p.G426_V430del0
c.1277_1288del12
1 paper
NM_001044.5
p.A423_M424Splc
c.1270-5T>A
3 papers
NM_001044.5
p.G433R
c.1297G>C
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