Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.R446G

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
5 papers
NM_021815.5
p.R446G
c.1336A>G
Surrounding Variants
1 paper
NM_021815.5
p.R446K
c.1337G>A
1 paper
NM_021815.5
p.G450E
c.1349G>A
1 paper
NM_021815.5
p.E451Q
c.1351G>C
2 papers
NM_021815.5
p.E451D
c.1353G>C
2 papers
NM_021815.5
p.E451D
c.1353G>T
1 paper
NM_021815.5
p.L454R
c.1361T>G
1 paper
NM_021815.5
p.V436M
c.1306G>A
1 paper
NM_021815.5
p.A435insFs
c.1303_1304insTG
1 paper
NM_021815.5
p.N431K
c.1293C>A
1 paper
NM_021815.5
p.N431K
c.1293C>G
1 paper
NM_021815.5
p.K428insFs
c.1282dupA
1 paper
NM_021815.5
p.V427fs
c.1279_1280fs
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