Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.G123_M126del4

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.G123_M126del4
c.367_377del12
Surrounding Variants
2 papers
NM_021815.5
p.G127S
c.379G>A
1 paper
NM_021815.5
p.P117L
c.350C>T
1 paper
NM_021815.5
p.G128V
c.383G>T
1 paper
NM_021815.5
p.V112V
c.336G>A
7 papers
NM_021815.5
p.V112E
c.335T>A
6 papers
NM_021815.5
p.Y111H
c.331T>C
5 papers
NM_021815.5
p.R107H
c.320G>A
1 paper
NM_021815.5
p.P105P
c.315T>A
1 paper
NM_021815.5
p.F140L
c.418T>C
6 papers
NM_021815.5
p.P105S
c.313C>T
1 paper
NM_021815.5
p.F101C
c.302T>G
1 paper
NM_021815.5
p.I145delFs
c.434delT
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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."