Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A17
Variant:p.D56_A57delins

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
3 papers
NM_001010898.4
p.D56_A57delins
c.168_169delinsCA
Surrounding Variants
9 papers
NM_001010898.4
p.A57T
c.169G>A
2 papers
NM_001010898.4
p.A50V
c.149C>T
1 paper
NM_001010898.4
p.S65I
c.194G>T
1 paper
NM_001010898.4
p.A41V
c.122C>T
1 paper
NM_001010898.4
p.P87R
c.260C>G
1 paper
NM_001010898.4
p.Y88*
c.264C>A
1 paper
NM_001010898.4
p.Y88*
c.264C>G
1 paper
NM_001010898.4
p.V21M
c.61G>A
1 paper
NM_001010898.4
p.N93Y
c.277A>T
1 paper
NM_001010898.4
p.E19A
c.56A>C
1 paper
NM_001010898.4
p.P2L
c.5C>T
1 paper
NM_001010898.4
p.L113F
c.337C>T
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