Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.V322_S324Fs

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
1 paper
NM_006516.4
p.V322_S324Fs
c.966_971delinsTFs
Surrounding Variants
13 papers
NM_006516.4
p.S324L
c.971C>T
1 paper
NM_006516.4
p.S324*
c.971C>A
1 paper
NM_006516.4
p.S324delFs
c.970delA
1 paper
NM_006516.4
p.S324insFs
c.970_971insA
1 paper
NM_006516.4
p.S324P
c.970T>C
1 paper
NM_006516.4
p.S324fs
c.970_971fs
4 papers
NM_006516.4
p.S324S
c.972G>A
1 paper
NM_006516.4
p.S324fs
c.970_971fs
2 papers
NM_006516.4
p.S324_L325Splc
c.972+1G>T
2 papers
NM_006516.4
p.S324_L325Splc
c.972+1G>C
1 paper
NM_006516.4
p.V323A
c.968T>C
2 papers
NM_006516.4
p.V322_V323delFs
c.966_967delCG
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