Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.L147H

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.L147H
c.440T>A
Surrounding Variants
1 paper
NM_003041.4
p.L147F
c.439C>T
1 paper
NM_003041.4
p.L145L
c.435C>T
1 paper
NM_003041.4
p.L149L
c.445C>T
1 paper
NM_003041.4
p.L149P
c.446T>C
1 paper
NM_003041.4
p.L149L
c.447G>A
1 paper
NM_003041.4
p.V144V
c.432G>C
7 papers
NM_003041.4
p.Y150H
c.448T>C
1 paper
NM_003041.4
p.I151L
c.451A>C
1 paper
NM_003041.4
p.I151V
c.451A>G
1 paper
NM_003041.4
p.S143delFs
c.429delT
1 paper
NM_003041.4
p.I151M
c.453C>G
1 paper
NM_003041.4
p.L142P
c.425T>C
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