Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.Y319_L320del1

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.Y319_L320del1
c.956_958delACC
Surrounding Variants
1 paper
NM_003041.4
p.K321Q
c.961A>C
11 papers
NM_003041.4
p.K321R
c.962A>G
1 paper
NM_003041.4
p.L316L
c.948G>T
1 paper
NM_003041.4
p.L316L
c.946C>T
1 paper
NM_003041.4
p.T323P
c.967A>C
1 paper
NM_003041.4
p.T323K
c.968C>A
6 papers
NM_003041.4
p.T323R
c.968C>G
3 papers
NM_003041.4
p.P324fs
c.970_971fs
2 papers
NM_003041.4
p.C314R
c.940T>C
1 paper
NM_003041.4
p.M325_F326delFs
c.973_977del5
4 papers
NM_003041.4
p.G313D
c.938G>A
2 papers
NM_003041.4
p.M325fs
c.973_974fs
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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."