Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.I157T

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.I157T
c.470T>C
Surrounding Variants
1 paper
NM_021815.5
p.D158N
c.472G>A
1 paper
NM_021815.5
p.D158E
c.474T>A
1 paper
NM_021815.5
p.D158E
c.474T>G
1 paper
NM_021815.5
p.V155G
c.464T>G
1 paper
NM_021815.5
p.D160N
c.478G>A
1 paper
NM_021815.5
p.M161_H162del2
c.481_485del6
6 papers
NM_021815.5
p.Y175C
c.524A>G
2 papers
NM_021815.5
p.D188A
c.563A>C
2 papers
NM_021815.5
p.V203I
c.607G>A
1 paper
NM_021815.5
p.H209N
c.625C>A
5 papers
NM_021815.5
p.P210L
c.629C>T
1 paper
NM_021815.5
p.G216V
c.647G>T
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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."