Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7

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
1–12 of 163 variants
17 papers
NM_021815.5
p.I89V
c.265A>G
10 papers
NM_021815.5
p.K499fs
c.1495_1496fs
7 papers
NM_021815.5
p.V112E
c.335T>A
6 papers
NM_021815.5
p.G65E
c.194G>A
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
6 papers
NM_021815.5
p.P105S
c.313C>T
6 papers
NM_021815.5
p.Y111H
c.331T>C
6 papers
NM_021815.5
p.Y175C
c.524A>G
6 papers
NM_021815.5
p.S263F
c.788C>T
6 papers
NM_021815.5
p.V344L
c.1030G>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."