Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A7
Variant:p.H49insFs

SLC2A7

62 papers

RefSeq Summary

SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helice...

Pfam Domains

Sugar_traa 26–481UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 2 member 7

HGNC Alias Symbol

GLUT7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207420.3
p.H49insFs
c.146_147ins11
Surrounding Variants
1 paper
NM_207420.3
p.H49fs
c.145_146fs
1 paper
NM_207420.3
p.K50insFs
c.148_149ins11
1 paper
NM_207420.3
p.P48R
c.143C>G
1 paper
NM_207420.3
p.P48insFs
c.143_144ins11
2 papers
NM_207420.3
p.K50fs
c.148_149fs
1 paper
NM_207420.3
p.R18W
c.52C>T
1 paper
NM_207420.3
p.G17R
c.49G>C
1 paper
NM_207420.3
p.G17R
c.49G>A
1 paper
NM_207420.3
p.E5D
c.15G>T
1 paper
NM_207420.3
p.E5D
c.15G>C
2 papers
NM_207420.3
p.T59N
c.176C>A
2 papers
NM_207420.3
p.R63*
c.187C>T
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