Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.K510delFs

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
2 papers
NM_021815.5
p.K510delFs
c.1528delA
Surrounding Variants
1 paper
NM_021815.5
p.K510Q
c.1528A>C
4 papers
NM_021815.5
p.K510fs
c.1528_1529fs
2 papers
NM_021815.5
p.P509fs
c.1525_1526fs
1 paper
NM_021815.5
p.P509delFs
c.1526delC
1 paper
NM_021815.5
p.K499T
c.1496A>C
6 papers
NM_021815.5
p.K499delFs
c.1497delG
10 papers
NM_021815.5
p.K499fs
c.1495_1496fs
1 paper
NM_021815.5
p.H521delFs
c.1561_1562delCA
4 papers
NM_021815.5
p.H521fs
c.1561_1562fs
2 papers
NM_021815.5
p.H521Q
c.1563C>A
2 papers
NM_021815.5
p.H521Q
c.1563C>G
1 paper
NM_021815.5
p.C493S
c.1478G>C
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