Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.I68F

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.I68F
c.202A>T
Surrounding Variants
1 paper
NM_021815.5
p.G66A
c.197G>C
6 papers
NM_021815.5
p.G65E
c.194G>A
1 paper
NM_021815.5
p.T61A
c.181A>G
1 paper
NM_021815.5
p.G81insFs
c.241dupG
1 paper
NM_021815.5
p.G81S
c.241G>A
1 paper
NM_021815.5
p.A85A
c.255T>A
1 paper
NM_021815.5
p.P88Q
c.263C>A
17 papers
NM_021815.5
p.I89V
c.265A>G
1 paper
NM_021815.5
p.I89F
c.265A>T
6 papers
NM_021815.5
p.S94R
c.280A>C
6 papers
NM_021815.5
p.S94R
c.282T>A
6 papers
NM_021815.5
p.S94R
c.282T>G
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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."