Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A17
Variant:p.V243I

SLC6A17

86 papers

RefSeq Summary

The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is select...

Pfam Domains

SNFaa 60–643UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 17

HGNC Alias Symbol

NTT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001010898.4
p.V243I
c.727G>A
Surrounding Variants
2 papers
NM_001010898.4
p.V233M
c.697G>A
1 paper
NM_001010898.4
p.K251_V252Splc
c.753+5G>A
1 paper
NM_001010898.4
p.R208*
c.622C>T
1 paper
NM_001010898.4
p.W206*
c.618G>A
1 paper
NM_001010898.4
p.W206*
c.617G>A
1 paper
NM_001010898.4
p.E197K
c.589G>A
1 paper
NM_001010898.4
p.V184I
c.550G>A
1 paper
NM_001010898.4
p.V183A
c.548T>C
1 paper
NM_001010898.4
p.P182L
c.545C>T
1 paper
NM_001010898.4
p.W178*
c.534G>A
1 paper
NM_001010898.4
p.W178*
c.533G>A
1 paper
NM_001010898.4
p.P175fs
c.523_524fs
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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."