Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.S252S

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.S252S
c.756C>T
Surrounding Variants
1 paper
NM_003041.4
p.S253N
c.758G>A
1 paper
NM_003041.4
p.F254L
c.760T>C
1 paper
NM_003041.4
p.I251V
c.751A>G
1 paper
NM_003041.4
p.F254L
c.762C>A
1 paper
NM_003041.4
p.F254L
c.762C>G
1 paper
NM_003041.4
p.C255C
c.765C>T
1 paper
NM_003041.4
p.Y256C
c.767A>G
1 paper
NM_003041.4
p.R257*
c.769C>T
1 paper
NM_003041.4
p.A247G
c.740C>G
1 paper
NM_003041.4
p.P258R
c.773C>G
1 paper
NM_003041.4
p.P246P
c.738A>C
1 paper
NM_003041.4
p.P258P
c.774C>T
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