Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.H547N

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.H547N
c.1639C>A
Surrounding Variants
1 paper
NM_001044.5
p.H547D
c.1639C>G
2 papers
NM_001044.5
p.H547fs
c.1639_1640fs
1 paper
NM_001044.5
p.H547R
c.1640A>G
1 paper
NM_001044.5
p.H547P
c.1640A>C
3 papers
NM_001044.5
p.H547insFs
c.1639dupC
2 papers
NM_001044.5
p.H547Q
c.1641C>G
1 paper
NM_001044.5
p.H547fs
c.1639_1640fs
2 papers
NM_001044.5
p.H547Q
c.1641C>A
1 paper
NM_001044.5
p.Y548H
c.1642T>C
1 paper
NM_001044.5
p.P545fs
c.1633_1634fs
1 paper
NM_001044.5
p.P545L
c.1634C>T
1 paper
NM_001044.5
p.P545A
c.1633C>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."