Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.A129T

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
2 papers
NM_001044.5
p.A129T
c.385G>A
Surrounding Variants
1 paper
NM_001044.5
p.A129D
c.386C>A
1 paper
NM_001044.5
p.A128V
c.383C>T
1 paper
NM_001044.5
p.V131I
c.391G>A
1 paper
NM_001044.5
p.W132L
c.395G>T
1 paper
NM_001044.5
p.K133*
c.397A>T
1 paper
NM_001044.5
p.Q122_N124del3
c.364_371del9
1 paper
NM_001044.5
p.N124delFs
c.371delT
1 paper
NM_001044.5
p.K133T
c.398A>C
1 paper
NM_001044.5
p.I134fs
c.400_401fs
4 papers
NM_001044.5
p.K133delFs
c.399delC
1 paper
NM_001044.5
p.F123L
c.369C>G
1 paper
NM_001044.5
p.F123Y
c.368T>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."