Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.S393A

SLC5A1

195 papers

RefSeq Summary

This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the int...

Pfam Domains

SSFaa 58–492UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 1

HGNC Previous Symbol

SGLT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000343.4
p.S393A
c.1177T>G
Surrounding Variants
1 paper
NM_000343.4
p.S393C
c.1178C>G
2 papers
NM_000343.4
p.S392C
c.1174A>T
2 papers
NM_000343.4
p.T395A
c.1183A>G
1 paper
NM_000343.4
p.S389A
c.1165T>G
1 paper
NM_000343.4
p.I397T
c.1190T>C
4 papers
NM_000343.4
p.A388V
c.1163C>T
1 paper
NM_000343.4
p.L387M
c.1159C>A
1 paper
NM_000343.4
p.S402_T403Fs
c.1205_1207delinsAFs
1 paper
NM_000343.4
p.M382T
c.1145T>C
4 papers
NM_000343.4
p.F405S
c.1214T>C
5 papers
NM_000343.4
p.R379Q
c.1136G>A
5 papers
NM_000343.4
p.R379*
c.1135C>T
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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."