Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q282*

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
6 papers
NM_006516.4
p.Q282*
c.844C>T
Surrounding Variants
4 papers
NM_006516.4
p.Q282L
c.845A>T
1 paper
NM_006516.4
p.S281C
c.842C>G
1 paper
NM_006516.4
p.V276_S281delFs
c.828_841del14
8 papers
NM_006516.4
p.Q283*
c.847C>T
1 paper
NM_006516.4
p.Q283K
c.847C>A
1 paper
NM_006516.4
p.L280_S281insFs
c.840_841insA
2 papers
NM_006516.4
p.Q283R
c.848A>G
1 paper
NM_006516.4
p.L280R
c.839T>G
1 paper
NM_006516.4
p.Q283insFs
c.848_849insA
1 paper
NM_006516.4
p.L284V
c.850C>G
1 paper
NM_006516.4
p.L284P
c.851T>C
1 paper
NM_006516.4
p.S285P
c.853T>C
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