Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.T62fs

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.T62fs
c.184_185fs
Surrounding Variants
1 paper
NM_006516.4
p.L61_T62Fs
c.183_185delinsAAFs
1 paper
NM_006516.4
p.L61del1
c.181_182delGAG
1 paper
NM_006516.4
p.R51_L61del0
c.151_183del33
1 paper
NM_006516.4
p.T63_L64insFs
c.189_190ins23
1 paper
NM_006516.4
p.T63_L64insFs
c.189_190ins22
1 paper
NM_006516.4
p.T63_L64insFs
c.189_190ins23
1 paper
NM_006516.4
p.L61R
c.182T>G
2 papers
NM_006516.4
p.L64F
c.190C>T
1 paper
NM_006516.4
p.L64insFs
c.190_191ins23
1 paper
NM_006516.4
p.L64fs
c.190_191fs
1 paper
NM_006516.4
p.L64P
c.191T>C
1 paper
NM_006516.4
p.T60fs
c.178_179fs
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