Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.V532fs

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.V532fs
c.1594_1595fs
Surrounding Variants
3 papers
NM_021815.5
p.V532A
c.1595T>C
1 paper
NM_021815.5
p.K533insFs
c.1597dupA
1 paper
NM_021815.5
p.T529K
c.1586C>A
2 papers
NM_021815.5
p.H521Q
c.1563C>A
2 papers
NM_021815.5
p.H521Q
c.1563C>G
4 papers
NM_021815.5
p.H521fs
c.1561_1562fs
1 paper
NM_021815.5
p.H521delFs
c.1561_1562delCA
1 paper
NM_021815.5
p.R548Q
c.1643G>A
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.K510delFs
c.1528delA
2 papers
NM_021815.5
p.P509fs
c.1525_1526fs
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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."