Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A16
Variant:p.F320V

SLC6A16

40 papers

RefSeq Summary

SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular ...

Pfam Domains

SNFaa 103–685UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 16

HGNC Alias Symbol

NTT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014037.3
p.F320V
c.958T>G
Surrounding Variants
2 papers
NM_014037.3
p.R311W
c.931C>T
1 paper
NM_014037.3
p.K329*
c.985A>T
1 paper
NM_014037.3
p.Q345H
c.1035A>T
1 paper
NM_014037.3
p.Q345H
c.1035A>C
1 paper
NM_014037.3
p.G353C
c.1057G>T
1 paper
NM_014037.3
p.G291E
c.872G>A
1 paper
NM_014037.3
p.N285S
c.854A>G
2 papers
NM_014037.3
p.L278V
c.832C>G
1 paper
NM_014037.3
p.W276C
c.828G>T
1 paper
NM_014037.3
p.W276C
c.828G>C
1 paper
NM_014037.3
p.S390Y
c.1169C>A
1 paper
NM_014037.3
p.A400V
c.1199C>T
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