Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.D454H

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
1 paper
NM_000343.4
p.D454H
c.1360G>C
Surrounding Variants
1 paper
NM_000343.4
p.F453L
c.1359C>A
1 paper
NM_000343.4
p.F453L
c.1359C>G
3 papers
NM_000343.4
p.F453C
c.1358T>G
1 paper
NM_000343.4
p.F453L
c.1357T>C
4 papers
NM_000343.4
p.Q457E
c.1369C>G
10 papers
NM_000343.4
p.Q457R
c.1370A>G
1 paper
NM_000343.4
p.I459T
c.1376T>C
1 paper
NM_000343.4
p.Q448R
c.1343A>G
2 papers
NM_000343.4
p.T460P
c.1378A>C
1 paper
NM_000343.4
p.T460A
c.1378A>G
1 paper
NM_000343.4
p.T460S
c.1378A>T
1 paper
NM_000343.4
p.T460S
c.1379C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."