Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.S243R

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.S243R
c.729T>G
Surrounding Variants
1 paper
NM_021815.5
p.S243R
c.729T>A
1 paper
NM_021815.5
p.S243R
c.727A>C
2 papers
NM_021815.5
p.D242N
c.724G>A
1 paper
NM_021815.5
p.Y238C
c.713A>G
1 paper
NM_021815.5
p.V237I
c.709G>A
1 paper
NM_021815.5
p.E236Q
c.706G>C
1 paper
NM_021815.5
p.G216V
c.647G>T
5 papers
NM_021815.5
p.P210L
c.629C>T
1 paper
NM_021815.5
p.H209N
c.625C>A
2 papers
NM_021815.5
p.V203I
c.607G>A
1 paper
NM_021815.5
p.P253delFs
c.757delC
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."