Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.F359V

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.F359V
c.1075T>G
Surrounding Variants
1 paper
NM_021815.5
p.F359C
c.1076T>G
1 paper
NM_021815.5
p.R361W
c.1081C>T
5 papers
NM_021815.5
p.R361Q
c.1082G>A
1 paper
NM_021815.5
p.S356R
c.1068T>A
1 paper
NM_021815.5
p.S356R
c.1068T>G
1 paper
NM_021815.5
p.S356R
c.1066A>C
1 paper
NM_021815.5
p.L366I
c.1096C>A
1 paper
NM_021815.5
p.S350A
c.1048T>G
1 paper
NM_021815.5
p.D349A
c.1046A>C
3 papers
NM_021815.5
p.D349N
c.1045G>A
3 papers
NM_021815.5
p.S347A
c.1039T>G
1 paper
NM_021815.5
p.N371_A372Splc
c.1113+1G>A
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