Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.V330A

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.V330A
c.989T>C
Surrounding Variants
1 paper
NM_021815.5
p.L327V
c.979C>G
1 paper
NM_021815.5
p.G336C
c.1006G>T
1 paper
NM_021815.5
p.G336A
c.1007G>C
1 paper
NM_021815.5
p.M318K
c.953T>A
6 papers
NM_021815.5
p.V344L
c.1030G>C
1 paper
NM_021815.5
p.E315K
c.943G>A
3 papers
NM_021815.5
p.S346A
c.1036T>G
3 papers
NM_021815.5
p.S347A
c.1039T>G
3 papers
NM_021815.5
p.D349N
c.1045G>A
1 paper
NM_021815.5
p.D349A
c.1046A>C
1 paper
NM_021815.5
p.S350A
c.1048T>G
5 papers
NM_021815.5
p.P310L
c.929C>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."