Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.Q127H

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
1 paper
NM_003041.4
p.Q127H
c.381G>C
Surrounding Variants
1 paper
NM_003041.4
p.Q127H
c.381G>T
1 paper
NM_003041.4
p.P126P
c.378A>G
8 papers
NM_003041.4
p.Y128*
c.384C>A
8 papers
NM_003041.4
p.Y128*
c.384C>G
1 paper
NM_003041.4
p.L129V
c.385C>G
1 paper
NM_003041.4
p.R130S
c.388C>A
3 papers
NM_003041.4
p.R130C
c.388C>T
3 papers
NM_003041.4
p.M125T
c.374T>C
1 paper
NM_003041.4
p.R130H
c.389G>A
1 paper
NM_003041.4
p.T124M
c.371C>T
1 paper
NM_003041.4
p.T124A
c.370A>G
1 paper
NM_003041.4
p.K131K
c.393G>A
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