Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.V316I

SLC2A1

1,013 papers

RefSeq Summary

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a...

Pfam Domains

Sugar_traa 15–467UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 2 member 1

HGNC Previous Symbols

GLUT1; GLUT; HTLVR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006516.4
p.V316I
c.946G>A
Surrounding Variants
1 paper
NM_006516.4
p.I315M
c.945C>G
1 paper
NM_006516.4
p.K300_I315delFs
c.899_944del46
1 paper
NM_006516.4
p.V316V
c.948C>T
1 paper
NM_006516.4
p.G314fs
c.940_941fs
1 paper
NM_006516.4
p.N317I
c.950A>T
6 papers
NM_006516.4
p.N317T
c.950A>C
2 papers
NM_006516.4
p.G314D
c.941G>A
1 paper
NM_006516.4
p.G314C
c.940G>T
1 paper
NM_006516.4
p.S313insFs
c.939dupC
1 paper
NM_006516.4
p.G314R
c.940G>C
22 papers
NM_006516.4
p.G314S
c.940G>A
1 paper
NM_006516.4
p.T318A
c.952A>G
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