Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A17

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
1–12 of 75 variants
9 papers
NM_001010898.4
p.A57T
c.169G>A
7 papers
NM_001010898.4
p.G162R
c.484G>A
7 papers
NM_001010898.4
p.G162R
c.484G>C
6 papers
NM_001010898.4
p.P633R
c.1898C>G
3 papers
NM_001010898.4
p.D56_A57delins
c.168_169delinsCA
2 papers
NM_001010898.4
p.A50V
c.149C>T
2 papers
NM_001010898.4
p.I135R
c.404T>G
2 papers
NM_001010898.4
p.V233M
c.697G>A
2 papers
NM_001010898.4
p.V243I
c.727G>A
2 papers
NM_001010898.4
p.V297G
c.890T>G
2 papers
NM_001010898.4
p.V435M
c.1303G>A
2 papers
NM_001010898.4
p.A528T
c.1582G>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."