Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.R608H

SLC5A2

244 papers

RefSeq Summary

This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorp...

Pfam Domains

SSFaa 55–492UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 2

HGNC Previous Symbol

SGLT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003041.4
p.R608H
c.1823G>A
Surrounding Variants
1 paper
NM_003041.4
p.R608P
c.1823G>C
1 paper
NM_003041.4
p.R608R
c.1824C>G
1 paper
NM_003041.4
p.R608C
c.1822C>T
1 paper
NM_003041.4
p.F607F
c.1821C>T
1 paper
NM_003041.4
p.C610R
c.1828T>C
1 paper
NM_003041.4
p.L606F
c.1816C>T
2 papers
NM_003041.4
p.P604S
c.1810C>T
1 paper
NM_003041.4
p.A603T
c.1807G>A
2 papers
NM_003041.4
p.P602P
c.1806G>A
1 paper
NM_003041.4
p.P602P
c.1806G>C
1 paper
NM_003041.4
p.P602L
c.1805C>T
1 paper
NM_003041.4
p.P602T
c.1804C>A
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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."