Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.R336H

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.R336H
c.1007G>A
Surrounding Variants
1 paper
NM_003041.4
p.R336R
c.1008C>T
5 papers
NM_003041.4
p.S335G
c.1003A>G
1 paper
NM_003041.4
p.M333L
c.997A>C
1 paper
NM_003041.4
p.M333L
c.997A>T
1 paper
NM_003041.4
p.Y339*
c.1017C>A
1 paper
NM_003041.4
p.Y339*
c.1017C>G
1 paper
NM_003041.4
p.Y339Y
c.1017C>T
1 paper
NM_003041.4
p.G332A
c.995G>C
1 paper
NM_003041.4
p.G332R
c.994G>C
1 paper
NM_003041.4
p.D341N
c.1021G>A
1 paper
NM_003041.4
p.D341H
c.1021G>C
2 papers
NM_003041.4
p.D341Splc
c.1021+1G>A
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