Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.I294T

SLC5A7

136 papers

RefSeq Summary

This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline fro...

Pfam Domains

SSFaa 42–442UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 7

HGNC Alias Symbols

hCHT; CHT1; ChT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021815.5
p.I294T
c.881T>C
Surrounding Variants
2 papers
NM_021815.5
p.A293T
c.877G>A
3 papers
NM_021815.5
p.A296T
c.886G>A
5 papers
NM_021815.5
p.I291T
c.872T>C
1 paper
NM_021815.5
p.A288V
c.863C>T
1 paper
NM_021815.5
p.P287S
c.859C>T
1 paper
NM_021815.5
p.V283L
c.847G>C
1 paper
NM_021815.5
p.V283L
c.847G>T
1 paper
NM_021815.5
p.C281S
c.842G>C
1 paper
NM_021815.5
p.C281S
c.841T>A
6 papers
NM_021815.5
p.S263F
c.788C>T
1 paper
NM_021815.5
p.Y257H
c.769T>C
1 paper
NM_021815.5
p.W254R
c.760T>C
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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."