Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.K428insFs

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.K428insFs
c.1282dupA
Surrounding Variants
1 paper
NM_021815.5
p.V427fs
c.1279_1280fs
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.L421fs
c.1261_1262fs
1 paper
NM_021815.5
p.A435insFs
c.1303_1304insTG
1 paper
NM_021815.5
p.Q420K
c.1258C>A
1 paper
NM_021815.5
p.V436M
c.1306G>A
1 paper
NM_021815.5
p.P419A
c.1255C>G
5 papers
NM_021815.5
p.F418V
c.1252T>G
1 paper
NM_021815.5
p.F418fs
c.1252_1253fs
3 papers
NM_021815.5
p.Y414N
c.1240T>A
1 paper
NM_021815.5
p.L412H
c.1235T>A
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