Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.R52R

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.R52R
c.156T>C
Surrounding Variants
1 paper
NM_000343.4
p.R52H
c.155G>A
12 papers
NM_000343.4
p.N51S
c.152A>G
1 paper
NM_000343.4
p.T50T
c.150C>T
2 papers
NM_000343.4
p.F58L
c.172T>C
1 paper
NM_000343.4
p.F58L
c.174C>A
1 paper
NM_000343.4
p.F58L
c.174C>G
1 paper
NM_000343.4
p.L60P
c.179T>C
6 papers
NM_000343.4
p.R63*
c.187C>T
1 paper
NM_000343.4
p.P69L
c.206C>T
1 paper
NM_000343.4
p.P69P
c.207G>A
1 paper
NM_000343.4
p.W45S
c.134G>C
2 papers
NM_000343.4
p.G43R
c.127G>A
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